SettingsAutosomal dominant disorders
Acropectoral syndrome
Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet, sternum, and lumbosacral spine.
Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet, sternum, and lumbosacral spine.
Adermatoglyphia
Adermatoglyphia is a rare medical condition which causes a person to have no fingerprints.
Adermatoglyphia is a rare medical condition which causes a person to have no fingerprints.
Albright's hereditary osteodystrophy
Albright’s hereditary osteodystrophy is form of osteodystrophy, otherwise known as Pseudohypoparathyroidism type 1a.
Albright’s hereditary osteodystrophy is form of osteodystrophy, otherwise known as Pseudohypoparathyroidism type 1a.
Arakawa's syndrome II
Arakawa's syndrome II is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methy...
Arakawa's syndrome II is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methy...
Axenfeld syndrome
Axenfeld syndrome is the name given to a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.
Axenfeld syndrome is the name given to a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region.
Bethlem myopathy
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a variation in one of the three genes coding for type VI collagen.
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a variation in one of the three genes coding for type VI collagen.
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.
Branchio-oto-renal syndrome
Branchio-oto-renal syndrome, also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck.
Branchio-oto-renal syndrome, also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck.
Buschke-Ollendorff syndrome
Buschke–Ollendorff syndrome, also known as Dermatofibrosis lenticularis disseminata, is a rare genetic disorder associated with LEMD3.
Buschke–Ollendorff syndrome, also known as Dermatofibrosis lenticularis disseminata, is a rare genetic disorder associated with LEMD3.
Buschke–Ollendorff syndrome
Buschke–Ollendorff syndrome, also known as Dermatofibrosis lenticularis disseminata, is a rare genetic disorder associated with LEMD3.
Buschke–Ollendorff syndrome, also known as Dermatofibrosis lenticularis disseminata, is a rare genetic disorder associated with LEMD3.
Central core disease
Central core disease, also known as central core myopathy, is an autosomal dominant congenital myopathy.
Central core disease, also known as central core myopathy, is an autosomal dominant congenital myopathy.
Collagen disease
Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis), but now is thought to be m...
Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis), but now is thought to be m...
Collagenopathy, types II and XI
The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs.
The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs.
Congenital stromal corneal dystrophy
Congenital stromal corneal dystrophy (CSCD), also called Witschel dystrophy, is an extremely rare, autosomal dominant form of human corneal dystrophy.
Congenital stromal corneal dystrophy (CSCD), also called Witschel dystrophy, is an extremely rare, autosomal dominant form of human corneal dystrophy.
Currarino syndrome
The Currarino syndrome is an inherited congenital disorder where the sacrum is not formed properly, there is a mass in the presacral space in front of the sacrum, and there are malformations of ...
The Currarino syndrome is an inherited congenital disorder where the sacrum is not formed properly, there is a mass in the presacral space in front of the sacrum, and there are malformations of ...
Darier's disease
Darier's disease, also known as Darier–White disease, Dyskeratosis follicularis and Keratosis follicularis, is an autosomal dominant disorder discovered by French dermatologist...
Darier's disease, also known as Darier–White disease, Dyskeratosis follicularis and Keratosis follicularis, is an autosomal dominant disorder discovered by French dermatologist...
Dermatopathia pigmentosa reticularis
Dermatopathia pigmentosa reticularis is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia.
Dermatopathia pigmentosa reticularis is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia.
DiGeorge syndrome
22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome, DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face synd...
22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome, DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face synd...
Dysfibrinogenemia
The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal fibrinogens.
The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal fibrinogens.
Familial atrial fibrillation
Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm.
Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm.
Familial dysfibrinogenemia
The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal fibrinogens.
The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal fibrinogens.
Familial hyperestrogenism
Familial hyperestrogenism, also defined as aromatase excess syndrome as well as hereditary or famlilial gynecomastia, is a rare genetic and endocrine syndrome of unknown etiolo...
Familial hyperestrogenism, also defined as aromatase excess syndrome as well as hereditary or famlilial gynecomastia, is a rare genetic and endocrine syndrome of unknown etiolo...
Feingold syndrome
Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant hereditary disorder.
Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant hereditary disorder.
Felty's syndrome
Felty's syndrome, also called Felty syndrome, is characterized by the combination of rheumatoid arthritis, splenomegaly and neutropenia.
Felty's syndrome, also called Felty syndrome, is characterized by the combination of rheumatoid arthritis, splenomegaly and neutropenia.
Fibromuscular dysplasia
Fibromuscular dysplasia, or fibromuscular dysplasia of arteries, often abbreviated as FMD, is a disease that can cause narrowing of arteries in the kidneys, the carotid arteries supp...
Fibromuscular dysplasia, or fibromuscular dysplasia of arteries, often abbreviated as FMD, is a disease that can cause narrowing of arteries in the kidneys, the carotid arteries supp...
Flynn-Aird syndrome
Flynn-Aird Syndrome is a rare, autosomal dominant, hereditary degenerative neurological disease involving defects in the nervous, auditory, skeletal, visual, and endocrine systems.
Flynn-Aird Syndrome is a rare, autosomal dominant, hereditary degenerative neurological disease involving defects in the nervous, auditory, skeletal, visual, and endocrine systems.
Flynn–Aird syndrome
Flynn-Aird Syndrome is a rare, autosomal dominant, hereditary degenerative neurological disease involving defects in the nervous, auditory, skeletal, visual, and endocrine systems.
Flynn-Aird Syndrome is a rare, autosomal dominant, hereditary degenerative neurological disease involving defects in the nervous, auditory, skeletal, visual, and endocrine systems.
Gardner's syndrome
Gardner syndrome, also known as familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors...
Gardner syndrome, also known as familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors...
Gillespie syndrome
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency and Gillespie's syndrome II, is a rare genetic disorder.
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency and Gillespie's syndrome II, is a rare genetic disorder.
Granular corneal dystrophy type II
Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy, is a rare form of human corneal dystrophy.
Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy, is a rare form of human corneal dystrophy.
Gray platelet syndrome
Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the re...
Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the re...
Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face.
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face.
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...
Hawkinsinuria
Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of the sulfur amino acid hawkinsin.
Hawkinsinuria, also called 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, is an autosomal dominant metabolic disorder affecting the metabolism of the sulfur amino acid hawkinsin.
Hay-Wells syndrome
Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of ectodermal dysplasia.
Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of ectodermal dysplasia.
Hay–Wells syndrome
Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of ectodermal dysplasia.
Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of ectodermal dysplasia.
Hereditary elliptocytosis
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the sufferer's erythrocytes are elliptical rather than the typical bi...
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the sufferer's erythrocytes are elliptical rather than the typical bi...
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in ...
Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in ...
Hereditary mucoepithelial dysplasia
Hereditary mucoepithelial dysplasia (HMD), or simply mucoepithelial dysplasia, is a rare autosomal dominant multiepithelial disorder causing systemic maldevelopment of the epithelia and mu...
Hereditary mucoepithelial dysplasia (HMD), or simply mucoepithelial dysplasia, is a rare autosomal dominant multiepithelial disorder causing systemic maldevelopment of the epithelia and mu...
Holt-Oram syndrome
Holt–Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems.
Holt–Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems.
Holt–Oram syndrome
Holt–Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems.
Holt–Oram syndrome is a disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems.
Hypoalphalipoproteinemia
Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.
Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.
Jackson-Weiss syndrome
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull, which prevents further growth of the skull and affects th...
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull, which prevents further growth of the skull and affects th...
Keratolytic winter erythema
Keratolytic Winter erythema (KWE), also known as erythrokeratolysis hiemalis, Oudtshoorn disease and Oudtshoorn skin, is a rare autosomal dominant skin disease of unknown etiol...
Keratolytic Winter erythema (KWE), also known as erythrokeratolysis hiemalis, Oudtshoorn disease and Oudtshoorn skin, is a rare autosomal dominant skin disease of unknown etiol...
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.
Kostmann syndrome
Kostmann syndrome, also known as severe congenital neutropenia, autosomal recessive type 3 and Kostmann disease, is a rare autosomal recessive form of severe chronic neutropenia usua...
Kostmann syndrome, also known as severe congenital neutropenia, autosomal recessive type 3 and Kostmann disease, is a rare autosomal recessive form of severe chronic neutropenia usua...
Langer-Giedion syndrome
Langer-Giedion Syndrome, also called trichorhinophalangeal syndrome type II or LGCR, is a very uncommon autosomal dominant genetic disorder caused by a deletion of chromosomal material.
Langer-Giedion Syndrome, also called trichorhinophalangeal syndrome type II or LGCR, is a very uncommon autosomal dominant genetic disorder caused by a deletion of chromosomal material.
Larsen syndrome
Larsen syndrome (LS), is a rare usually autosomal dominant congenital disorder that occurs in about every 1 in 100,000 people.
Larsen syndrome (LS), is a rare usually autosomal dominant congenital disorder that occurs in about every 1 in 100,000 people.
Liddle's syndrome
Liddle's syndrome, also called Liddle syndrome and pseudoaldosteronism, is an autosomal dominant disorder characterized by early, and frequently severe, hypertension associated with ...
Liddle's syndrome, also called Liddle syndrome and pseudoaldosteronism, is an autosomal dominant disorder characterized by early, and frequently severe, hypertension associated with ...
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...
Marshall syndrome
Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss.
Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss.
Medullary cystic kidney disease
Medullary cystic kidney disease is an autosomal dominant kidney disorder characterized by cysts in both kidneys and tubulointerstitial sclerosis leading to end-stage renal disease.
Medullary cystic kidney disease is an autosomal dominant kidney disorder characterized by cysts in both kidneys and tubulointerstitial sclerosis leading to end-stage renal disease.
Metachondromatosis
Metachondromatosis is an autosomal dominant skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.
Metachondromatosis is an autosomal dominant skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.
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...
MOMO syndrome
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births.
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births.
Monilethrix
Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.
Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.
Multiple endocrine neoplasia
The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern.
The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern.
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1 (MEN-1 syndrome) or Wermer's syndrome is part of a group of disorders that affect the endocrine system.
Multiple endocrine neoplasia type 1 (MEN-1 syndrome) or Wermer's syndrome is part of a group of disorders that affect the endocrine system.
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary thyroid carcinoma", "PTC syndrome," and "Sipple syndrome") is a group of medical disorders as...
Multiple endocrine neoplasia type 2 (also known as "Pheochromocytoma and amyloid producing medullary thyroid carcinoma", "PTC syndrome," and "Sipple syndrome") is a group of medical disorders as...
Multiple endocrine neoplasia type 2b
Multiple endocrine neoplasia type 3 (also known as "Mucosal neuromata with endocrine tumors", "Multiple endocrine neoplasia type 2B", "MEN2B", "Multiple mucosal neuroma synd...
Multiple endocrine neoplasia type 3 (also known as "Mucosal neuromata with endocrine tumors", "Multiple endocrine neoplasia type 2B", "MEN2B", "Multiple mucosal neuroma synd...
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...
Myotonic dystrophy
Myotonic dystrophy is a chronic, slowly progressing, highly variable, inherited multisystemic disease.
Myotonic dystrophy is a chronic, slowly progressing, highly variable, inherited multisystemic disease.
Naegeli-Franceschetti-Jadassohn syndrome
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, charact...
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, charact...
Naegeli–Franceschetti–Jadassohn syndrome
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, charact...
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, charact...
Nail-patella syndrome
Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips.
Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips.
Nail–patella syndrome
Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips.
Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips.
Noonan syndrome
Noonan Syndrome (NS) is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally.
Noonan Syndrome (NS) is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally.
Oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant neuromuscular disease which appears in early middle age (sixth decade).
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant neuromuscular disease which appears in early middle age (sixth decade).
Pachyonychia congenita
Pachyonychia congenita is an autosomal dominant skin disorder.
Pachyonychia congenita is an autosomal dominant skin disorder.
Pallister-Hall syndrome
Pallister-Hall syndrome is a disorder that affects the development of many parts of the body.
Pallister-Hall syndrome is a disorder that affects the development of many parts of the body.
PAPA syndrome
PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne.
PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne.
Papillorenal syndrome
Papillorenal syndrome, also called Renal-coloboma syndrome or isolated renal hypoplasia, is an autosomal dominant genetic disorder marked by underdevelopment of the kidney and colobo...
Papillorenal syndrome, also called Renal-coloboma syndrome or isolated renal hypoplasia, is an autosomal dominant genetic disorder marked by underdevelopment of the kidney and colobo...
Pelger-Huet anomaly
Pelger-Huet anomaly is a blood laminopathy associated with the lamin B receptor.
Pelger-Huet anomaly is a blood laminopathy associated with the lamin B receptor.
Piebaldism
Piebaldism is a rare autosomal dominant disorder of melanocyte development.
Piebaldism is a rare autosomal dominant disorder of melanocyte development.
Platyspondylic lethal skeletal dysplasia, Torrance type
Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth.
Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth.
Popliteal pterygium syndrome
Popliteal pterygium syndrome is an inherited condition affecting the face, limbs, and genitalia.
Popliteal pterygium syndrome is an inherited condition affecting the face, limbs, and genitalia.
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...
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...
Say-Meyer syndrome
Say-Meyer syndrome, also called trigonocephaly with short stature and developmental delay, is an autosomal dominant congenital disorder consisting of trigonocephaly, short stature, and mot...
Say-Meyer syndrome, also called trigonocephaly with short stature and developmental delay, is an autosomal dominant congenital disorder consisting of trigonocephaly, short stature, and mot...
Schmitt Gillenwater Kelly syndrome
Schmitt Gillenwater Kelly syndrome is a rare autosomal dominant congenital disorder consisting of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.
Schmitt Gillenwater Kelly syndrome is a rare autosomal dominant congenital disorder consisting of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.
Short QT syndrome
Short QT syndrome is a genetic disease of the electrical system of the heart.
Short QT syndrome is a genetic disease of the electrical system of the heart.
Spinocerebellar ataxia
Spinocerebellar ataxia is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.
Spinocerebellar ataxia is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.
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.
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionall...
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionall...
Spondyloperipheral dysplasia
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth.
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth.
Stickler syndrome
Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen.
Stickler syndrome is a group of genetic disorders affecting connective tissue, specifically collagen.
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.
Timothy syndrome
Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythm...
Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythm...
Transthyretin-related hereditary amyloidosis
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis or Corino de Andrade's disease, is an autosomal dominant ne...
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis or Corino de Andrade's disease, is an autosomal dominant ne...
Treacher Collins syndrome
Treacher–Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized b...
Treacher–Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized b...
Treacher-Collins syndrome
Treacher–Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized b...
Treacher–Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized b...
Treacher–Collins syndrome
Treacher–Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized b...
Treacher–Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized b...
Tuberous sclerosis
Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys,...
Tuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys,...
Upington disease
Upington disease, also called Perthes-like hip disease, enchondromata and ecchondromata, is an extremely rare autosomal dominant malformation disorder having only one published source clai...
Upington disease, also called Perthes-like hip disease, enchondromata and ecchondromata, is an extremely rare autosomal dominant malformation disorder having only one published source clai...
Van der Woude syndrome
Van Der Woude syndrome is a genetic disorder and congenital malformation.
Van Der Woude syndrome is a genetic disorder and congenital malformation.
Variegate porphyria
Variegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin.
Variegate porphyria is an autosomal dominant porphyria that can have acute symptoms along with symptoms that affect the skin.
Vitelliform macular dystrophy
Vitelliform macular dystrophy or vitelliform dystrophy is a genetic eye disorder that can cause progressive vision loss.
Vitelliform macular dystrophy or vitelliform dystrophy is a genetic eye disorder that can cause progressive vision loss.
Von Hippel-Lindau disease
Von Hippel–Lindau disease (VHL) is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina.
Von Hippel–Lindau disease (VHL) is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina.
Von Willebrand disease
Von Willebrand disease (vWD) is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions.
Von Willebrand disease (vWD) is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions.
Wallis Zieff Goldblatt syndrome
Wallis Zieff Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects.
Wallis Zieff Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects.
WHIM syndrome
WHIM Syndrome (or Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.
WHIM Syndrome (or Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.
White sponge nevus
White sponge nevus (WSN), also known as Cannon's disease, Hereditary leukokeratosis of mucosa and White sponge nevus of Cannon, is an autosomal dominant skin condition.
White sponge nevus (WSN), also known as Cannon's disease, Hereditary leukokeratosis of mucosa and White sponge nevus of Cannon, is an autosomal dominant skin condition.
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...
Zaspopathy
Zaspopathy, also called ZASP-related myofibril myopathy, is a novel autosomal dominant form of progressive muscular dystrophy, first described in 2005.
Zaspopathy, also called ZASP-related myofibril myopathy, is a novel autosomal dominant form of progressive muscular dystrophy, first described in 2005.
Zimmermann-Laband syndrome
Zimmermann-Laband syndrome (ZLS), also known as Laband Zimmermann syndrome, and Laband's Syndrome, is an extremely rare autosomal dominant congenital disorder.
Zimmermann-Laband syndrome (ZLS), also known as Laband Zimmermann syndrome, and Laband's Syndrome, is an extremely rare autosomal dominant congenital disorder.
Zimmermann–Laband syndrome
Zimmermann-Laband syndrome (ZLS), also known as Laband Zimmermann syndrome, and Laband's Syndrome, is an extremely rare autosomal dominant congenital disorder.
Zimmermann-Laband syndrome (ZLS), also known as Laband Zimmermann syndrome, and Laband's Syndrome, is an extremely rare autosomal dominant congenital disorder.
Zori-Stalker-Williams syndrome
Zori-Stalker-Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant congenital disorder associated with a range o...
Zori-Stalker-Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant congenital disorder associated with a range o...
Zori–Stalker–Williams syndrome
Zori-Stalker-Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant congenital disorder associated with a range o...
Zori-Stalker-Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant congenital disorder associated with a range o...