SettingsCongenital disorders
1q21.1 deletion syndrome
1q21.1 deletion syndrome or 1q21.1 microdeletion is a rare aberration of chromosome 1.
1q21.1 deletion syndrome or 1q21.1 microdeletion is a rare aberration of chromosome 1.
1q21.1 duplication syndrome
1q21.1 duplication syndrome or 1q21.1 microduplication is a rare aberration of chromosome 1.
1q21.1 duplication syndrome or 1q21.1 microduplication is a rare aberration of chromosome 1.
Aase–Smith syndrome
Aase-Smith syndromes are deformities occurring in males characterised by a decreased production (hypoplasia) of red blood cells leading to anemia as well as certain joint contractures.
Aase-Smith syndromes are deformities occurring in males characterised by a decreased production (hypoplasia) of red blood cells leading to anemia as well as certain joint contractures.
Aberrant subclavian artery
Aberrant subclavian artery, or aberrant subclavian artery syndrome refers to a rare anatomical variant of the origin of the right or left subclavian artery.
Aberrant subclavian artery, or aberrant subclavian artery syndrome refers to a rare anatomical variant of the origin of the right or left subclavian artery.
Achondrogenesis
Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage).
Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage).
Achondrogenesis type 1B
Achondrogenesis, type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen.
Achondrogenesis, type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen.
Achondrogenesis type 2
Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs.
Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs.
Acrodermatitis enteropathica
Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial (around the natural orifices) and acral (in the limbs) derm...
Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial (around the natural orifices) and acral (in the limbs) derm...
Acrodysostosis
Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal j...
Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal j...
Adams–Oliver syndrome
Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.
Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.
Agenesis of the corpus callosum
Agenesis of the corpus callosum is a rare birth defect in which there is a complete or partial absence of the corpus callosum.
Agenesis of the corpus callosum is a rare birth defect in which there is a complete or partial absence of the corpus callosum.
Amazia
Amazia refers to a condition where mammary gland is absent, either congenitally or iatrogenically (the nipple and areola remain present).
Amazia refers to a condition where mammary gland is absent, either congenitally or iatrogenically (the nipple and areola remain present).
Amniotic Band Constriction
Amniotic band constriction (also called amniotic band syndrome (ABS), congenital constriction bands or rings, or ADAM (amniotic deformity, adhesions, and mutilations)) is a congenital disorder c...
Amniotic band constriction (also called amniotic band syndrome (ABS), congenital constriction bands or rings, or ADAM (amniotic deformity, adhesions, and mutilations)) is a congenital disorder c...
Amyoplasia
Amyoplasia is a generalized lack in the newborn of muscular development and growth, with contracture and deformity at most joints.
Amyoplasia is a generalized lack in the newborn of muscular development and growth, with contracture and deformity at most joints.
Aneurysm of sinus of Valsalva
Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is comparatively rare.
Aneurysm of the aortic sinus, also known as the sinus of Valsalva, is comparatively rare.
Ankyloglossia
Ankyloglossia, commonly known as tongue tie, is a congenital oral anomaly which may decrease mobility of the tongue tip and is caused by an unusually short, thick lingual frenulum, a membr...
Ankyloglossia, commonly known as tongue tie, is a congenital oral anomaly which may decrease mobility of the tongue tip and is caused by an unusually short, thick lingual frenulum, a membr...
Anomalous Left Coronary Artery From the Pulmonary Artery
Anomalous Left Coronary Artery From the Pulmonary Artery, also known as Bland-White-Garland Syndrome, is a rare congenital anomaly in which the left coronary artery, which normally branches off ...
Anomalous Left Coronary Artery From the Pulmonary Artery, also known as Bland-White-Garland Syndrome, is a rare congenital anomaly in which the left coronary artery, which normally branches off ...
Anotia
Anotia describes a rare, congenital deformity, a missing auricle, the external, visible part of the ear.
Anotia describes a rare, congenital deformity, a missing auricle, the external, visible part of the ear.
Arachnoid cyst
Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the ...
Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the ...
Arrhinia
Arrhinia ( or ; also called nasal agenesis) is the congenital partial or complete absence of the nose at birth.
Arrhinia ( or ; also called nasal agenesis) is the congenital partial or complete absence of the nose at birth.
Arteriovenous malformation
Arteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually congenital.
Arteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually congenital.
Atransferrinemia
Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron ...
Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron ...
Ayazi syndrome
Ayazi syndrome is a syndrome characterized by choroideremia, congenital deafness and obesity.
Ayazi syndrome is a syndrome characterized by choroideremia, congenital deafness and obesity.
Bangstad syndrome
Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane.
Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane.
Barakat syndrome
Barakat syndrome, also known as HDR syndrome, was first described by Amin J. Barakat et al.
Barakat syndrome, also known as HDR syndrome, was first described by Amin J. Barakat et al.
Benjamin syndrome
Benjamin Syndrome (or Benjamin anemia) is a type of multiple congenital anomaly/mental retardation (MCA/MR) syndrome.
Benjamin Syndrome (or Benjamin anemia) is a type of multiple congenital anomaly/mental retardation (MCA/MR) syndrome.
Bhaskar Jagannathan syndrome
Bhaskar Jagannathan syndrome is an extremely rare genetic disorder and there is a limited amount of information related to it.
Bhaskar Jagannathan syndrome is an extremely rare genetic disorder and there is a limited amount of information related to it.
Bicuspid aortic valve
A bicuspid aortic valve (BAV) is most commonly a congenital condition of the aortic valve where two of the aortic valvular leaflets fuse during development resulting in a valve that is bicuspid ...
A bicuspid aortic valve (BAV) is most commonly a congenital condition of the aortic valve where two of the aortic valvular leaflets fuse during development resulting in a valve that is bicuspid ...
BIDS syndrome
BIDS syndrome, also called nonphotosensitive trichothiodystrophy 1 (TTND1), Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive genodermatosis ...
BIDS syndrome, also called nonphotosensitive trichothiodystrophy 1 (TTND1), Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive genodermatosis ...
Björnstad syndrome
Björnstad syndrome is a congenital condition involving deafness and hair abnormalities.
Björnstad syndrome is a congenital condition involving deafness and hair abnormalities.
Boomerang dysplasia
Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang.
Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang.
Brachycephaly
In people, brachycephaly, also known as flat head syndrome, is a type of cephalic disorder.
In people, brachycephaly, also known as flat head syndrome, is a type of cephalic disorder.
Brugada syndrome
The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
CAMFAK syndrome
CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that see...
CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that see...
Camptodactyly
Camptodactyly is a medical condition involving fixed flexion deformity of the interphalangeal joints of the little finger.
Camptodactyly is a medical condition involving fixed flexion deformity of the interphalangeal joints of the little finger.
Cat eye syndrome
Cat Eye Syndrome is a rare condition caused by the short arm and a small section of the long arm of human Chromosome 22 being present three or four times instead of the usual two times.
Cat Eye Syndrome is a rare condition caused by the short arm and a small section of the long arm of human Chromosome 22 being present three or four times instead of the usual two times.
Caudal regression syndrome
Caudal regression syndrome or sacral agenesis is a congenital disorder in which there is abnormal fetal development of the lower spine—the caudal partition of the spine.
Caudal regression syndrome or sacral agenesis is a congenital disorder in which there is abnormal fetal development of the lower spine—the caudal partition of the spine.
Cephalic disorder
Cephalic disorders (from the Greek word κεφάλη, meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system.
Cephalic disorders (from the Greek word κεφάλη, meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system.
Cerebral arteriovenous malformation
A cerebral arteriovenous malformation (AVM) is an abnormal connection between the arteries and veins in the brain.
A cerebral arteriovenous malformation (AVM) is an abnormal connection between the arteries and veins in the brain.
Cerebral palsy
Cerebral palsy is an umbrella term encompassing a group of non-progressive, non-contagious motor conditions that cause physical disability in human development, chiefly in the various areas of b...
Cerebral palsy is an umbrella term encompassing a group of non-progressive, non-contagious motor conditions that cause physical disability in human development, chiefly in the various areas of b...
CHERUBS
"CHERUBS is an international organization for families and care-givers of children and adults who are diagnosed with Congenital Diaphragmatic Hernia (CDH).
"CHERUBS is an international organization for families and care-givers of children and adults who are diagnosed with Congenital Diaphragmatic Hernia (CDH).
Cirsoid aneurysm
A cirsoid aneurysm is the dilation of a group of blood vessels due to congenital malformations with AV (arterio venous) shunting.
A cirsoid aneurysm is the dilation of a group of blood vessels due to congenital malformations with AV (arterio venous) shunting.
Cleft hand
Cleft hand, also known as lobster-claw hand or split hand, is a rare form of a congenital disorder in which the development of the hand is disturbed.
Cleft hand, also known as lobster-claw hand or split hand, is a rare form of a congenital disorder in which the development of the hand is disturbed.
Cloacal exstrophy
Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed.
Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed.
Coarctation of the aorta
Coarctation of the aorta, or aortic coarctation, is a congenital condition whereby the aorta narrows in the area where the ductus arteriosus inserts.
Coarctation of the aorta, or aortic coarctation, is a congenital condition whereby the aorta narrows in the area where the ductus arteriosus inserts.
Coloboma of optic nerve
Coloboma of optic nerve or Morning Glory syndrome is a rare defect of the optic nerve that causes moderate to severe blindness.
Coloboma of optic nerve or Morning Glory syndrome is a rare defect of the optic nerve that causes moderate to severe blindness.
Colpocephaly
Colpocephaly refers to an abnormal appearance of the brain in which there is asymmetric dilatation of its lateral ventricle occipital horns, but with normal caliber frontal horns.
Colpocephaly refers to an abnormal appearance of the brain in which there is asymmetric dilatation of its lateral ventricle occipital horns, but with normal caliber frontal horns.
Congenital abnormality
A congenital anomaly (congenital abnormality, congenital malformation, birth defect) is a condition which is present at the time of birth which varies from the standard present...
A congenital anomaly (congenital abnormality, congenital malformation, birth defect) is a condition which is present at the time of birth which varies from the standard present...
Congenital afibrinogenemia
Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation.
Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation.
Congenital anomalies of the genitalia
Congenital anomaly of the genitalia is a medical term referring to any physical abnormality of the male or female internal or external genitalia present at birth.
Congenital anomaly of the genitalia is a medical term referring to any physical abnormality of the male or female internal or external genitalia present at birth.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life, regardless of causation.
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life, regardless of causation.
Congenital epulis
The congenital epulis is a proliferation of cells on the upper jaw at birth.
The congenital epulis is a proliferation of cells on the upper jaw at birth.
Congenital estrogen deficiency
Congenital estrogen deficiency is a genetic condition by which the body is unable to produce or use estrogens.
Congenital estrogen deficiency is a genetic condition by which the body is unable to produce or use estrogens.
Congenital fiber type disproportion
Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders.
Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders.
Congenital hypothyroidism
Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth.
Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth.
Congenital insensitivity to pain
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions where a person cannot feel (and has never felt) physical pain.
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions where a person cannot feel (and has never felt) physical pain.
Congenital myasthenic syndrome
Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction.
Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction.
Congenital pulmonary airway malformation
Congenital pulmonary airway malformation (CPAM) is a hamartomatous lesion of the lung, with an incidence of about 1 in 5,000 live births.
Congenital pulmonary airway malformation (CPAM) is a hamartomatous lesion of the lung, with an incidence of about 1 in 5,000 live births.
Congenital rubella syndrome
Congenital rubella syndrome (CRS) can occur in a developing fetus of a pregnant woman who has contracted rubella during her first trimester.
Congenital rubella syndrome (CRS) can occur in a developing fetus of a pregnant woman who has contracted rubella during her first trimester.
Congenital syphilis
Congenital syphilis is syphilis present in utero and at birth, and occurs when a child is born to a mother with secondary syphilis.
Congenital syphilis is syphilis present in utero and at birth, and occurs when a child is born to a mother with secondary syphilis.
Crandall syndrome
Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti, and hypogonadism demonstrated through low leve...
Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti, and hypogonadism demonstrated through low leve...
Craniofacial team
A craniofacial team provides multidisciplinary consultations, diagnosis, treatment planning and procedures for a range of craniofacial anomolies and syndromes.
A craniofacial team provides multidisciplinary consultations, diagnosis, treatment planning and procedures for a range of craniofacial anomolies and syndromes.
Craniopagus parasiticus
Craniopagus parasiticus is a medical condition in which a parasitic twin head with an undeveloped body is attached to the head of a developed twin.
Craniopagus parasiticus is a medical condition in which a parasitic twin head with an undeveloped body is attached to the head of a developed twin.
Cretinism
Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (congenital hypothyroidism) usually due to maternal hypothyroidism.
Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (congenital hypothyroidism) usually due to maternal hypothyroidism.
Cyclopia
Cyclopia is a rare form of holoprosencephaly and is a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.
Cyclopia is a rare form of holoprosencephaly and is a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.
Cystic eyeball
Congenital cystic eye (also known as CCE or cystic eyeball) is an extremely rare ocular malformation where the eye fails to develop correctly in utero and is replaced by benign, flui...
Congenital cystic eye (also known as CCE or cystic eyeball) is an extremely rare ocular malformation where the eye fails to develop correctly in utero and is replaced by benign, flui...
Cystic fibrosis
Cystic fibrosis is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Cystic fibrosis is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Cystic hygroma
A cystic hygroma is a congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck.
A cystic hygroma is a congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck.
De Grouchy syndrome
De Grouchy syndrome refers to a deletion of chromosome 18.
De Grouchy syndrome refers to a deletion of chromosome 18.
Dextrocardia
Dextrocardia is a congenital defect in which the heart is situated on the right side of the body.
Dextrocardia is a congenital defect in which the heart is situated on the right side of the body.
Diprosopus
Diprosopus, also known as craniofacial duplication, is an extremely rare congenital disorder whereby part or all of the face is duplicated on the head.
Diprosopus, also known as craniofacial duplication, is an extremely rare congenital disorder whereby part or all of the face is duplicated on the head.
Dipygus
The dipygus deformity is a severe congenital deformity where the body axis forks left-and-right partway along the torso with the posterior end duplicated.
The dipygus deformity is a severe congenital deformity where the body axis forks left-and-right partway along the torso with the posterior end duplicated.
Duane syndrome
Duane syndrome (DS) is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to abduct or move outwards.
Duane syndrome (DS) is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to abduct or move outwards.
DynaVox
DynaVox Mayer-Johnson is a US-based developer, manufacturer and distributor of speech generating devices headquartered in Pittsburgh, Pennsylvania.
DynaVox Mayer-Johnson is a US-based developer, manufacturer and distributor of speech generating devices headquartered in Pittsburgh, Pennsylvania.
Dyschromia
Dyschromia refers to an alteration of the color of the skin or nails.
Dyschromia refers to an alteration of the color of the skin or nails.
Ectopia cordis
Ectopia cordis is a birth defect in which the heart is abnormally located.
Ectopia cordis is a birth defect in which the heart is abnormally located.
Ehlers-Danlos syndrome
Ehlers–Danlos syndrome (EDS) (also known as "Cutis hyperelastica") is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connec...
Ehlers–Danlos syndrome (EDS) (also known as "Cutis hyperelastica") is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connec...
Ehlers–Danlos syndrome
Ehlers–Danlos syndrome (EDS) (also known as "Cutis hyperelastica") is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connec...
Ehlers–Danlos syndrome (EDS) (also known as "Cutis hyperelastica") is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connec...
Emanuel syndrome
Derivative 22 syndrome, or der, is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal hea...
Derivative 22 syndrome, or der, is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal hea...
Endocardial fibroelastosis
Endocardial Fibroelastosis (EFE) is a rare heart disorder usually associated with children two years old and younger.
Endocardial Fibroelastosis (EFE) is a rare heart disorder usually associated with children two years old and younger.
Ethmocephaly
Ethmocephaly is a type of cephalic disorder caused by holoprosencephaly.
Ethmocephaly is a type of cephalic disorder caused by holoprosencephaly.
Exencephaly
Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull.
Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull.
Facial cleft
A facial cleft is an opening or gap in the face, or a malformation of a part of the face.
A facial cleft is an opening or gap in the face, or a malformation of a part of the face.
Familial cirrhosis
Familial cirrhosis is a form of cirrhosis that is a keratin disease.
Familial cirrhosis is a form of cirrhosis that is a keratin disease.
Femur fibula ulna syndrome
Femur-Fibula-Ulna Syndrome or Femur-Fibula-Ulna Complex is a very rare syndrome characterized by abnormalities of the femur, fibula and the ulna.
Femur-Fibula-Ulna Syndrome or Femur-Fibula-Ulna Complex is a very rare syndrome characterized by abnormalities of the femur, fibula and the ulna.
Fetal alcohol spectrum disorder
Fetal Alcohol Spectrum Disorders (FASD) describes a continuum of permanent birth defects caused by maternal consumption of alcohol during pregnancy, which includes, but is not limited to fetal a...
Fetal Alcohol Spectrum Disorders (FASD) describes a continuum of permanent birth defects caused by maternal consumption of alcohol during pregnancy, which includes, but is not limited to fetal a...
Fetal alcohol syndrome
Fetal alcohol syndrome is a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy.
Fetal alcohol syndrome is a pattern of mental and physical defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy.
Fetal hydantoin syndrome
Dilantin is the brand name of the drug phenytoin sodium in the United States, commonly used in the treatment of epilepsy.
Dilantin is the brand name of the drug phenytoin sodium in the United States, commonly used in the treatment of epilepsy.
Fetal warfarin syndrome
Fetal warfarin syndrome (Dysmorphism due to warfarin, Warfarin embryopathy ) is a condition associated with administration of Warfarin during pregnancy.
Fetal warfarin syndrome (Dysmorphism due to warfarin, Warfarin embryopathy ) is a condition associated with administration of Warfarin during pregnancy.
Fetus in fetu
Fetus in fetu is a developmental abnormality in which a mass of tissue resembling a fetus forms inside the body.
Fetus in fetu is a developmental abnormality in which a mass of tissue resembling a fetus forms inside the body.
Fibrochondrogenesis
Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.
Fibrochondrogenesis is a rare autosomal recessive form of osteochondrodysplasia, causing abnormal fibrous development of cartilage and related tissues.
Fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an extremely rare disease of the connective tissue.
Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an extremely rare disease of the connective tissue.
First arch syndrome
First arch syndromes are congenital defects caused by a failure of neural crest cells to migrate into the first pharyngeal arch.
First arch syndromes are congenital defects caused by a failure of neural crest cells to migrate into the first pharyngeal arch.
Fleischer's syndrome
Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples, occasional polymastia, and hypoplasia of both kidneys.
Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples, occasional polymastia, and hypoplasia of both kidneys.
Frontonasal dysplasia
Frontonasal dysplasia is a rare anomaly with distinct nasal deformities.
Frontonasal dysplasia is a rare anomaly with distinct nasal deformities.
Fukuyama congenital muscular dystrophy
Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan.
Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan.
Fundic gland polyposis
Fundic gland polyposis is a medical syndrome where the fundus of the stomach develops many polyps.
Fundic gland polyposis is a medical syndrome where the fundus of the stomach develops many polyps.
Galactokinase deficiency
Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol sec...
Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol sec...
Goldenhar syndrome
Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.
Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.
Hajdu-Cheney syndrome
Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autos...
Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autos...
Hajdu–Cheney syndrome
Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autos...
Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autos...
Halal syndrome
Halal syndrome is a rare disorder characterised by microcephaly, cleft palate, and variable other anomalies.
Halal syndrome is a rare disorder characterised by microcephaly, cleft palate, and variable other anomalies.
Harry Raymond Eastlack
Harry Raymond Eastlack, Jr. (1933 – 1973) died from fibrodysplasia ossificans progressiva (FOP), a rare and poorly understood disease in which the bone repair mechanism runs out of co...
Harry Raymond Eastlack, Jr. (1933 – 1973) died from fibrodysplasia ossificans progressiva (FOP), a rare and poorly understood disease in which the bone repair mechanism runs out of co...
Hearing loss with craniofacial syndromes
Hearing loss with craniofacial syndromes is a common occurrence.
Hearing loss with craniofacial syndromes is a common occurrence.
Hemifacial hypertrophy
Hemifacial hypertrophy abbreviated as (HFH) is rare congenital disease characterized by unilateral enlargement of the head and teeth.
Hemifacial hypertrophy abbreviated as (HFH) is rare congenital disease characterized by unilateral enlargement of the head and teeth.
Hemifacial microsomia
Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible.
Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible.
Heterotopia (medicine)
Heterotopia is often divided into three groups: subependymal heterotopia, focal cortical heterotopia and band heterotopia.
Heterotopia is often divided into three groups: subependymal heterotopia, focal cortical heterotopia and band heterotopia.
Ho–Kaufman–Mcalister Syndrome
The Ho Kaufman Mcalister Syndrome, also known as the Chen-Kung Ho Kaufman Mcalister Syndrome, is a rare congenital malformation syndrome where infants are born with a cleft palate, micrognathia,...
The Ho Kaufman Mcalister Syndrome, also known as the Chen-Kung Ho Kaufman Mcalister Syndrome, is a rare congenital malformation syndrome where infants are born with a cleft palate, micrognathia,...
Hydrolethalus syndrome
Hydrolethalus syndrome (less commonly referred to as Salonen-Herva-Norio syndrome) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and often s...
Hydrolethalus syndrome (less commonly referred to as Salonen-Herva-Norio syndrome) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and often s...
Hypodactylia
Hypodactylia is the absence or partially missing of fingers and/or toes at birth.
Hypodactylia is the absence or partially missing of fingers and/or toes at birth.
Hypoglossia
Hypoglossia is a short, incompletely developed tongue.
Hypoglossia is a short, incompletely developed tongue.
IBIDS syndrome
IBIDS syndrome, also known as trichothiodystrophy (TTD), photosynthetic trichthiodystrophy (TTDP), trichothiodystrophy with congenital ichthyosis, Tay syndrome or sulf...
IBIDS syndrome, also known as trichothiodystrophy (TTD), photosynthetic trichthiodystrophy (TTDP), trichothiodystrophy with congenital ichthyosis, Tay syndrome or sulf...
Ignacio Ponseti
Ignacio Ponseti (3 June 1914 – 18 October 2009) was a physician, specializing in orthopedics.
Ignacio Ponseti (3 June 1914 – 18 October 2009) was a physician, specializing in orthopedics.
Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, eye ab...
Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, eye ab...
Keutel syndrome
Keutel syndrome is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss,...
Keutel syndrome is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss,...
Kniest dysplasia
Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene.
Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene.
Laryngeal cleft
A laryngeal cleft or laryngotracheoesophageal cleft is a rare congenital abnormality in the posterior laryngo-tracheal wall.
A laryngeal cleft or laryngotracheoesophageal cleft is a rare congenital abnormality in the posterior laryngo-tracheal wall.
Late congenital syphilitic oculopathy
Late congenital syphilitic oculopathy is a disease of the eye, a manifestation of late congenital syphilis.
Late congenital syphilitic oculopathy is a disease of the eye, a manifestation of late congenital syphilis.
Levocardia
Levocardia is a medical condition where the heart is on the correct side of the body (the left), but the related structures are on the wrong side, either due to corrected transposition of the gr...
Levocardia is a medical condition where the heart is on the correct side of the body (the left), but the related structures are on the wrong side, either due to corrected transposition of the gr...
Lumbarization
Lumbarization is a term that refers to an anatomic anomaly in the human spine.
Lumbarization is a term that refers to an anatomic anomaly in the human spine.
Macrencephaly
Macrencephaly (from Greek "makros" - big, large and "enkephalos" - brain) is a condition present at or soon after birth in which the brain is abnormally large.
Macrencephaly (from Greek "makros" - big, large and "enkephalos" - brain) is a condition present at or soon after birth in which the brain is abnormally large.
Macroglossia
Macroglossia is the medical term for unusual enlargement of the tongue.
Macroglossia is the medical term for unusual enlargement of the tongue.
Majewski's polydactyly syndrome
Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type I, and short rib-polydactyly syndrome, is a leth...
Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type I, and short rib-polydactyly syndrome, is a leth...
Male-limited precocious puberty
Male-limited precocious puberty (also known as familial sexual precocity and gonadotropin-independent testotoxicosis) is a form of gonadotropin-independent precocious puberty in whic...
Male-limited precocious puberty (also known as familial sexual precocity and gonadotropin-independent testotoxicosis) is a form of gonadotropin-independent precocious puberty in whic...
Malformative syndrome
A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Huma...
A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Huma...
Malouf syndrome
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation...
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation...
Malpuech facial clefting syndrome
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome.
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome.
Marden-Walker syndrome
Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder.
Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder.
Marden–Walker syndrome
Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder.
Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder.
Marfanoid
Marfanoid (or Marfanoid habitus) is a term used to describe a constellation of findings including long limbs, arachnodactyly and hyperlaxity.
Marfanoid (or Marfanoid habitus) is a term used to describe a constellation of findings including long limbs, arachnodactyly and hyperlaxity.
Marinesco-Sjögren syndrome
Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.
Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.
Marinesco–Sjögren syndrome
Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.
Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessive disorder.
Meningohydroencephalocoele
Meningohydroencephalocoele (AmE: meningohydroencephalocele) is a form of meningocele (AmE) - a developmental abnormality of the central nervous system.
Meningohydroencephalocoele (AmE: meningohydroencephalocele) is a form of meningocele (AmE) - a developmental abnormality of the central nervous system.
Meromelia
Meromelia is the birth defect of lacking one or more arms or legs with the presence of a hand or foot.
Meromelia is the birth defect of lacking one or more arms or legs with the presence of a hand or foot.
Mesoblastic nephroma
Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life.
Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life.
Michels syndrome
Michels syndrome is a syndrome characterised by mental deficiency, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, highly arched eyebrows, and hypertelorism.
Michels syndrome is a syndrome characterised by mental deficiency, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, highly arched eyebrows, and hypertelorism.
Miller-Dieker syndrome
Miller–Dieker syndrome, also called Miller–Dieker lissencephaly syndrome and chromosome 17p13.3 deletion syndrome, is an autosomal dominant congenital disorder characterized by a dev...
Miller–Dieker syndrome, also called Miller–Dieker lissencephaly syndrome and chromosome 17p13.3 deletion syndrome, is an autosomal dominant congenital disorder characterized by a dev...
Minor physical anomalies
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-seated ears, sin...
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-seated ears, sin...
Monosomy 18p
Monosomy 18p or De Grouchy syndrome is the deletion of all or part of the short arm of chromosome 18.
Monosomy 18p or De Grouchy syndrome is the deletion of all or part of the short arm of chromosome 18.
Monosomy 9p
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9.
Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9.
Monstrous birth
A monstrous birth, variously defined in history, is a birth in which a defect of some sort renders the animal or human child monstrous.
A monstrous birth, variously defined in history, is a birth in which a defect of some sort renders the animal or human child monstrous.
MORM syndrome
MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis".
MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis".
Mounier-Kuhn syndrome
Mounier-Kuhn syndrome (also called tracheobronchomegaly) is a very rare disease of the lungs and airways where the trachea and bronchi become abnormally wide.
Mounier-Kuhn syndrome (also called tracheobronchomegaly) is a very rare disease of the lungs and airways where the trachea and bronchi become abnormally wide.
Muenke syndrome
Muenke Syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which ...
Muenke Syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which ...
Mulibrey nanism
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism"), also called Perheentupa syndrome and pericardial constriction with growth failure, is a rare autosomal rece...
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism"), also called Perheentupa syndrome and pericardial constriction with growth failure, is a rare autosomal rece...
Multiple abnormalities
Multiple abnormalities is a term used to describe congenital abnormality that can not be primarily identified with a single system of the body or single disease process.
Multiple abnormalities is a term used to describe congenital abnormality that can not be primarily identified with a single system of the body or single disease process.
Myelokathexis
Myelokathexis is a congenital disorder of the white blood cells that causes severe, chronic leukopenia (a reduction of circulating white blood cells) and neutropenia (a reduction of neutrophil g...
Myelokathexis is a congenital disorder of the white blood cells that causes severe, chronic leukopenia (a reduction of circulating white blood cells) and neutropenia (a reduction of neutrophil g...
Nager acrofacial dysostosis
Nager acrofacial dysostosis is a congenital anomaly syndrome that may be characterized by accessory tragi.
Nager acrofacial dysostosis is a congenital anomaly syndrome that may be characterized by accessory tragi.
Nakajo syndrome
Nakajo syndrome, also called nodular erythema with digital changes, is a rare autosomal recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous...
Nakajo syndrome, also called nodular erythema with digital changes, is a rare autosomal recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous...
Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and collegues in 1973.
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and collegues in 1973.
Neural tube defect
Neural tube defects are one of the most common birth defects, occurring in approximately one in 1,000 live births in the United States.
Neural tube defects are one of the most common birth defects, occurring in approximately one in 1,000 live births in the United States.
Neurocristopathy
Neurocristopathy is a term coined by Robert P. Bolande in 1974, referring to a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly de...
Neurocristopathy is a term coined by Robert P. Bolande in 1974, referring to a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly de...
Nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instabili...
Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instabili...
Norman-Roberts syndrome
Lissencephaly 2, more commonly called Norman-Roberts syndrome, is a rare form of lissencephaly caused by a mutation in the reelin gene.
Lissencephaly 2, more commonly called Norman-Roberts syndrome, is a rare form of lissencephaly caused by a mutation in the reelin gene.
Occipital horn syndrome
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder.
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder.
Opsismodysplasia
Opsismodysplasia is a type of skeletal dysplasia first described by Zonana and associates in 1977, and designated under its current name by Maroteaux.
Opsismodysplasia is a type of skeletal dysplasia first described by Zonana and associates in 1977, and designated under its current name by Maroteaux.
Orofaciodigital syndrome 1
Orofaciodigital syndrome 1 (OFD1), also called Papillon-Leage and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits wi...
Orofaciodigital syndrome 1 (OFD1), also called Papillon-Leage and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits wi...
Palatal obturator
A palatal obturator is a prosthesis that totally occludes an opening such as an orinasal fistula (in the roof of the mouth).
A palatal obturator is a prosthesis that totally occludes an opening such as an orinasal fistula (in the roof of the mouth).
Parasitic twin
A parasitic twin (also known as an asymmetrical or unequal conjoined twin) is the result of the processes that produce vanishing twins and conjoined twins, and may represent a contin...
A parasitic twin (also known as an asymmetrical or unequal conjoined twin) is the result of the processes that produce vanishing twins and conjoined twins, and may represent a contin...
Patterson syndrome
Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome.
Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome.
Pelvic digit
A pelvic digit, pelvic finger, or pelvic rib is a rare congenital abnormality in humans, in which bone tissue develops in the soft tissue near the pelvis, resembling a rib or finger ...
A pelvic digit, pelvic finger, or pelvic rib is a rare congenital abnormality in humans, in which bone tissue develops in the soft tissue near the pelvis, resembling a rib or finger ...
Peroxisomal disorder
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.
Persistent Mullerian duct syndrome
Persistent Müllerian duct syndrome refers to the presence of a uterus and sometimes other Müllerian duct derivatives in a genetically male animal.
Persistent Müllerian duct syndrome refers to the presence of a uterus and sometimes other Müllerian duct derivatives in a genetically male animal.
Persistent thyroglossal duct
A persistent thyroglossal duct is a usually benign medical condition in which the thyroglossal duct, a structure usually only found during embryonic development, fails to atrophy.
A persistent thyroglossal duct is a usually benign medical condition in which the thyroglossal duct, a structure usually only found during embryonic development, fails to atrophy.
Pigeon toe
Pigeon toe, also called metatarsus varus, metatarsus adductus, in-toe gait, intoeing or false clubfoot, is a condition which causes the toes to point inward when wa...
Pigeon toe, also called metatarsus varus, metatarsus adductus, in-toe gait, intoeing or false clubfoot, is a condition which causes the toes to point inward when wa...
Pilotto syndrome
Pilotto syndrome is a rare syndrome which affects the face, heart, and back.
Pilotto syndrome is a rare syndrome which affects the face, heart, and back.
Polymelia
Polymelia (from Greek πολυ- = "many" plus μέλος (plural μέλεα) = "limb") is a birth defect involving limbs (a type of dysmelia), in which the affected individual has more than the usual number o...
Polymelia (from Greek πολυ- = "many" plus μέλος (plural μέλεα) = "limb") is a birth defect involving limbs (a type of dysmelia), in which the affected individual has more than the usual number o...
Ponseti method
The Ponseti method is a manipulative technique that corrects congenital clubfoot without invasive surgery.
The Ponseti method is a manipulative technique that corrects congenital clubfoot without invasive surgery.
Posterior urethral valve
Posterior urethral valve (PUV) disorder is an obstructive developmental anomaly in the urethra and genitourinary system of male newborns.
Posterior urethral valve (PUV) disorder is an obstructive developmental anomaly in the urethra and genitourinary system of male newborns.
Potocki-Lupski syndrome
Potocki-Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microdupl...
Potocki-Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microdupl...
Potocki-Shaffer syndrome
Potocki-Shaffer syndrome, also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 1...
Potocki-Shaffer syndrome, also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, is a rare contiguous gene syndrome that results from the microdeletion of section 1...
Proboscis (anomaly)
In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.
In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.
Proteus syndrome
Proteus syndrome, also known as Wiedemann syndrome, is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.
Proteus syndrome, also known as Wiedemann syndrome, is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.
Proximal 18q-
Proximal 18q- is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.
Proximal 18q- is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18.
Proximal femoral focal deficiency
Proximal femoral focal deficiency (PFFD) is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur.
Proximal femoral focal deficiency (PFFD) is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur.
Pseudovaginal perineoscrotal hypospadias
Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant.
Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant.
Pyruvate kinase deficiency
Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cel...
Pyruvate kinase deficiency, also called erythrocyte pyruvate kinase deficiency, is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cel...
Renal dysplasia-limb defects syndrome
Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder.
Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder.
Renal-hepatic-pancreatic dysplasia
Renal-hepatic-pancreatic dysplasia is an autosomal recessive congenital disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis.
Renal-hepatic-pancreatic dysplasia is an autosomal recessive congenital disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis.
Ring chromosome 14 syndrome
Ring chromosome 14 syndrome is a very rare human chromosome abnormality.
Ring chromosome 14 syndrome is a very rare human chromosome abnormality.
Rosselli-Gulienetti syndrome
Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome and Bowen-Armstrong syndrome is a rare type of congenital Ectodermal Dysplasia syndrome.
Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome and Bowen-Armstrong syndrome is a rare type of congenital Ectodermal Dysplasia syndrome.
Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome (RTS; also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial...
Rubinstein-Taybi Syndrome (RTS; also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial...
Rudiger syndrome
Rudiger syndrome is a congenital disorder characterized by the association of severe growth retardation with abnormalities of the extremities, urogenital abnormalities and facial abnormalities.
Rudiger syndrome is a congenital disorder characterized by the association of severe growth retardation with abnormalities of the extremities, urogenital abnormalities and facial abnormalities.
Rudy Santos
Rudy Santos, born 1955 and known by his stage name Octoman, is a man from the Philippines who suffers from a rare condition known as parasitic twin, and he is the oldest recorded person in...
Rudy Santos, born 1955 and known by his stage name Octoman, is a man from the Philippines who suffers from a rare condition known as parasitic twin, and he is the oldest recorded person in...
Sacral agenesis
Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a little-known and rare congenital disorder in which there is abnormal fetal development of the lower spine—t...
Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a little-known and rare congenital disorder in which there is abnormal fetal development of the lower spine—t...
Sacral dimple
A sacral dimple or pilonidal dimple is a small hole located just above the buttocks.
A sacral dimple or pilonidal dimple is a small hole located just above the buttocks.
Sacralization of the fifth lumbar vertebra
Sacralization of the fifth lumbar vertebra is a congenital anomaly, in which the transverse process of the last lumbar vertebra fuses to the sacrum on one side or both, or to ilium, or both.
Sacralization of the fifth lumbar vertebra is a congenital anomaly, in which the transverse process of the last lumbar vertebra fuses to the sacrum on one side or both, or to ilium, or both.
Sacrococcygeal teratoma
Sacrococcygeal teratoma is a teratoma located at the base of the coccyx.
Sacrococcygeal teratoma is a teratoma located at the base of the coccyx.
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome, is a very rare autosomal dominant congenital disorder characterized by acro...
Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome, is a very rare autosomal dominant congenital disorder characterized by acro...
Seckel syndrome
The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Sec...
The Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Sec...
Senior-Løken syndrome
Senior-Løken syndrome is a congenital eye disorder, first characterized in 1961.
Senior-Løken syndrome is a congenital eye disorder, first characterized in 1961.
Sequence (medicine)
In medicine, a sequence is a series of ordered consequences due to a single cause.
In medicine, a sequence is a series of ordered consequences due to a single cause.
SHORT syndrome
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.
Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome is a craniosynostosis syndrome determined, at least in some cases, by mutation in the FBN1 gene.
Shprintzen-Goldberg syndrome is a craniosynostosis syndrome determined, at least in some cases, by mutation in the FBN1 gene.
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi-Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplas...
Simpson-Golabi-Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi-Rosen syndrome, Simpson dysmorphia syndrome (SDYS) or X-linked dysplas...
Sirenomelia
Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail.
Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail.
Smith-Fineman-Myers syndrome
Smith-Fineman-Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter-Waziri syndrome, Chudley-Lowry syndrome, Holmes...
Smith-Fineman-Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter-Waziri syndrome, Chudley-Lowry syndrome, Holmes...
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision.
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision.
Spondyloperipheral dysplasia
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth.
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth.
Structural variation
Structural variation (also genomic structural variation) consists of many kinds of variation in the genome of one species, and usually includes microscopic and submicroscopic types, such as dele...
Structural variation (also genomic structural variation) consists of many kinds of variation in the genome of one species, and usually includes microscopic and submicroscopic types, such as dele...
Symbrachydactyly
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or, rarely, foot.
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or, rarely, foot.
Teratoma
A teratoma is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
A teratoma is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
Tetra-amelia syndrome
Tetra-amelia syndrome, also called autosomal recessive tetraamelia, is a very rare autosomal recessive congenital disorder characterized by the absence of all four limbs.
Tetra-amelia syndrome, also called autosomal recessive tetraamelia, is a very rare autosomal recessive congenital disorder characterized by the absence of all four limbs.
Tietz syndrome
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and albinism.
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and albinism.
Trevor disease
Trevor disease (also known as Fairbank's disease and Trevor's disease), is a congenital bone developmental disorder.
Trevor disease (also known as Fairbank's disease and Trevor's disease), is a congenital bone developmental disorder.
Triphalangeal thumb
A triphalangeal thumb (TPT) is a congenital malformation where the thumb has three phalanges instead of two.
A triphalangeal thumb (TPT) is a congenital malformation where the thumb has three phalanges instead of two.
Triple-A syndrome
Triple-A syndrome (AAA), also known as Achalasia-Addisonianism-Alacrimia syndrome or Allgrove Syndrome, is a rare autosomal recessive congenital disorder.
Triple-A syndrome (AAA), also known as Achalasia-Addisonianism-Alacrimia syndrome or Allgrove Syndrome, is a rare autosomal recessive congenital disorder.
True hermaphroditism
True hermaphroditism is a medical term for an intersex condition in which an individual is born with ovarian and testicular tissue.
True hermaphroditism is a medical term for an intersex condition in which an individual is born with ovarian and testicular tissue.
Ulas family
The Ulas family is a large Kurdish family of 19 from rural southern Turkey, five (except for another, who had died) of whom walk on all fours with their feet and the palms of their hands in what...
The Ulas family is a large Kurdish family of 19 from rural southern Turkey, five (except for another, who had died) of whom walk on all fours with their feet and the palms of their hands in what...
Urofacial syndrome
Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an autosomal recessive congenital disorder characterized by inverted facial exp...
Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an autosomal recessive congenital disorder characterized by inverted facial exp...
VACTERL association
VATER syndrome or VACTERL association is a non-random association of birth defects.
VATER syndrome or VACTERL association is a non-random association of birth defects.
Van Goethem syndrome
Van Goethem Syndrome, also called radiodigitofacial dysplasia, is a congenital disorder.
Van Goethem Syndrome, also called radiodigitofacial dysplasia, is a congenital disorder.
Vein of Galen aneurysmal malformations
Vein of Galen aneurysmal malformations (VGAM) and Vein of Galen aneurysmal dilations (VGAD), which are the most frequent arteriovenous malformations in infants and fetuses.
Vein of Galen aneurysmal malformations (VGAM) and Vein of Galen aneurysmal dilations (VGAD), which are the most frequent arteriovenous malformations in infants and fetuses.
Velopharyngeal inadequacy
Velopharyngeal inadequacy (VPI) is a malfunction of a velopharyngeal mechanism.
Velopharyngeal inadequacy (VPI) is a malfunction of a velopharyngeal mechanism.
Vestigial twins
A vestigial twin is a rare form of conjoined (Siamese) twinning or more accurately, of parasitic twinning, where the parasitic 'twin' is so malformed and incomplete that it typically consists of...
A vestigial twin is a rare form of conjoined (Siamese) twinning or more accurately, of parasitic twinning, where the parasitic 'twin' is so malformed and incomplete that it typically consists of...
Vici syndrome
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder characterized by...
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder characterized by...
VLDLR-associated cerebellar hypoplasia
VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES; nonprogressive cerebellar disorder with mental retardation) is a rare au...
VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES; nonprogressive cerebellar disorder with mental retardation) is a rare au...
Vomer flap surgery
Vomer flap surgery was used prior to 1975 as a surgical treatment for children with cleft palate.
Vomer flap surgery was used prior to 1975 as a surgical treatment for children with cleft palate.
Walker-Warburg syndrome
Walker-Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocula...
Walker-Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocula...
Wandering spleen
Wandering spleen (or Pelvic spleen) is a rare medical disease caused by the loss or weakening of the ligaments that help to hold the spleen.
Wandering spleen (or Pelvic spleen) is a rare medical disease caused by the loss or weakening of the ligaments that help to hold the spleen.
Warkany syndrome
Warkany syndrome 1 is an X-chromosome linked recessive genetic condition originally described by Warkany in 1961 as part of an article on intrauterine growth retardation.
Warkany syndrome 1 is an X-chromosome linked recessive genetic condition originally described by Warkany in 1961 as part of an article on intrauterine growth retardation.
Weaver syndrome
Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certai...
Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certai...
Weissenbacher-Zweymüller syndrome
Weissenbacher-Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly -> glu) ...
Weissenbacher-Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly -> glu) ...
Worth syndrome
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hypero...
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hypero...
Young Simpson syndrome
Young Simpson syndrome (YSS), is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardatio...
Young Simpson syndrome (YSS), is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardatio...
Zadik Barak Levin syndrome
Zadik Barak Levin Syndrome (ZBLS) is a congenital disorder in humans.
Zadik Barak Levin Syndrome (ZBLS) is a congenital disorder in humans.
Zamzam-Sheriff-Phillips syndrome
Zamzam Sheriff Phillips syndrome is a rare autosomal recessive congenital disorder.
Zamzam Sheriff Phillips syndrome is a rare autosomal recessive congenital disorder.