Arachnodactyly Arachnodactyly ("spider fingers") or achromachia, is a condition in which the fingers are abnormally long and slender in comparison to the palm of the hand.
Arthrogryposis Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint contractures in two or more areas of the body.
Bifid rib A bifid rib is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans.
Bochdalek hernia A Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni's hernia.
Brachycephaly Brachycephaly, also known as flat head syndrome, is a type of cephalic disorder.
Brachydactyly Brachydactyly (Greek βραχύς = "short" plus δάκτυλος = "finger"), is a medical term which literally means "shortness of the fingers and toes" (digits).
Cenani Lenz syndactylism Cenani Lenz syndactylism, also known as Cenani Lenz syndrome or Cenani syndactylism, is an autosomal recessive congenital malformation syndrome involving both upper and lower extremities.
Cenani-Lenz syndactylism Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism, is an autosomal recessive congenital malformation syndrome involving both upper and lower extremities.
Cervical rib A cervical rib in humans is a supernumerary (or extra) rib which arises from the seventh cervical vertebra.
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.
Cleidocranial dysostosis Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary congenital disorder, where there is delayed ossification of midline structures.
Clinodactyly Clinodactyly is a medical term describing a bend or curvature of the fifth fingers (the "little fingers") toward the adjacent fourth fingers.
Club foot A club foot or clubfoot, also called congenital talipes equinovarus (CTEV), is a congenital deformity involving one foot or both.
Congenital amputation Congenital amputation is a congenital disorder that can be caused by fibrous bands of the amnion that constrict foetal limbs to such an extent that they fall off due to missing blood supply.
Congenital anomalies of spine Specific birth defects which can occur, but certainly are not limited to the following list, may include such congenital anomalies of spine (or vertebral anomalies) as fused ribs, or missi...
Congenital clasped thumb Congenital clasped thumb describes an anomaly which is characterized by a fixed thumb into the palm at the metacarpophalangeal joint in one or both hands.
Congenital limb deformities Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs.
Congenital trigger thumb Congenital trigger thumb, (or Pediatric trigger thumb), is a trigger thumb in neonates and young children.
Coxa valga Coxa valga is a deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased, usually above 135 degrees.
Coxa vara Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees.
Craniodiaphyseal dysplasia Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial...
Craniofacial abnormality Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones.
Cranioschisis Cranioschisis (Greek: "κρανιον - kranion" skull, and "schisis - σχίσις" - split) is a developmental birth defect involving the skull.
Craniosynostosis Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses b...
Crouzon syndrome Crouzon syndrome is a genetic disorder known as a branchial arch syndrome.
Cubitus valgus Cubitus valgus is a medical deformity in which the forearm is angled away from the body to a greater degree than normal when fully extended.
Cubitus varus Cubitus varus (varus means a deformity of a limb in which part of it is deviated towards the midline of the body) is a common deformity in which the extended forearm is deviated towards midline ...
Dactyly In biology, dactyly is the arrangement of digits (fingers and toes) on the hands, feet, or sometimes wings of a tetrapod animal.
Diplopodia Diplopodia is a congenital anomaly in tetrapods that involves duplication of elements of the foot on the hind limb.
Dislocation of hip A dislocated hip is a condition that can be either congenital or acquired.
Dolichocephaly Dolichocephaly is another word for scaphocephaly, a condition where the head is longer than would be expected, relative to the width of the head.
Dysmelia Dysmelia is a congenital disorder referring to the limbs.
Dysostosis A dysostosis is a disorder of the development of bone, in particular affecting ossification.
Ectrodactyly Ectrodactyly, split hand, cleft hand or lobster claw hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split han...
Ectromelia Ectromelia is a congenital condition where long bones are missing or underdeveloped.
Fibular hemimelia Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities."
Flat feet Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arch of the foot collapses, with the entire sole of the foot coming into complete or near-com...
Floating-harbor syndrome Floating-harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare disease with less that 50 cases described in the literature.
Floating-Harbor syndrome Floating-Harbor syndrome, also known as Pelletier-Leisti syndrome, is a rare disease with fewer that 50 cases described in the literature.
Foot deformity A foot deformity is a disorder of the foot that can be congenital or acquired.
Franceschetti–Klein syndrome Franceschetti–Klein syndrome (also known as "Mandibulofacial dysostosis") is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palat...
Gastroschisis Gastroschisis represents a congenital defect characterized by a defect in the anterior abdominal wall through which the abdominal contents freely protrude.
Genetic testing for AIS AIS genetic testing is the process of analyzing the DNA of a patient who has been diagnosed with Adolescent Idiopathic Scoliosis to determine his or her likelihood of progression to a severe spi...
Genu valgum Genu valgum, commonly called "knock-knee", is a condition in which the knees angle in and touch one another when the legs are straightened.
Genu varum Genu Varum (also called bow-leggedness, bandiness, bandy-leg, and tibia vara), is a physical deformity marked by (outward) bowing of the leg in relation to the thigh, gi...
Glossoptosis Glossoptosis is a medical condition and abnormality which refers to the downward displacement or retraction of the tongue.
Gorham's disease Gorham's disease, also known as Gorham vanishing bone disease and phantom bone disease, is a very rare skeletal condition of uncertain etiology, characterized by the uncontrolled pro...
Hallermann-Streiff syndrome Hallermann-Streiff syndrome (also known as the François Dyscephalic Syndrome, Hallermann-Streiff-François syndrome, Oculomandibulodyscephaly with hypotrichosis and Oculomand...
Hallermann–Streiff syndrome Hallermann-Streiff syndrome (also known as the François Dyscephalic Syndrome, Hallermann-Streiff-François syndrome, Oculomandibulodyscephaly with hypotrichosis and Oculomand...
Hammer toe A hammer toe or contracted toe is a deformity of the proximal interphalangeal joint of the second, third, or fourth toe causing it to be permanently bent, resembling a hammer.
Hand deformity A hand deformity is a disorder of the hand that can be congenital or acquired.
Hemimelia Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities."
Hernia A hernia is the protrusion of an organ or the fascia of an organ through the wall of the cavity that normally contains it from within.
Hip dysplasia (human) Hip dysplasia, developmental dysplasia of the hip (DDH) or congenital dysplasia of the hip (CDH) is a congenital or developmental deformation or misalignment of the hip joint.
Hypertelorism Hypertelorism, derived from the Greek word "telouros" (meaning distant), is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance betwee...
Hypodactylia Hypodactylia is the absence or partially missing of fingers and/or toes at birth.
Klippel-Feil syndrome Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.
Klippel–Feil syndrome Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.
Kyphosis Kyphosis (from Greek κυφός kyphos, a hump), also called roundback or Kelso's hunchback, is a condition of overcurvature of the thoracic vertebrae (upper back).
Larsen syndrome Larsen syndrome (LS), is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients.
Lordosis The term lordosis refers to the normal inward curvature of the lumbar and cervical regions of the spine.Excessive or hyperlordosis can happen and this is commonly referred to as swayback or saddle back, a term that originates from the similar condition that arises in some horses.
Macrocephaly Macrocephaly (derived from the ancient Greek adjective μακροκέφαλος makroképhalos, "long-headed", composed of the words μακρός makros, "long" + κεφαλή kephalé, "head"), occurs when ...
Macrognathia Macrognathia refers to the condition of abnormally large jaws.
Madelung's deformity Madelung's deformity is usually characterized by malformed wrists, wrist bones and short stature and is often associated with Léri-Weill dyschondrosteosis.
Oligodactyly Oligodactyly (from Greek prefix oligo-, "having few, having little" + δάκτυλος (daktulos) "finger") in humans is "the presence of fewer than five fingers or toes on a hand or foot".
Omphalocele An omphalocele (British English: omphalocoele) is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac becau...
Ortolani test The Ortolani test or Ortolani maneuver is part of the physical examination for developmental dysplasia of the hip, along with the Barlow maneuver.
Oxycephaly Oxycephaly, also known as turricephaly and high-head syndrome, is a type of cephalic disorder.
Patella bipartita Patella bipartita (or bipartite patella) is a condition where the patella are composed of two separate bones.
Pectus excavatum Pectus excavatum (a Latin term meaning hollowed chest) is the most common congenital deformity of the anterior wall of the chest, in which several ribs and the sternum grow abnormally.
Pes cavus Pes cavus (in medical terminology, also high instep, high arch, talipes cavus, cavoid foot, and supinated foot type) is a human foot type in which the sole of the f...
Phocomelia Phocomelia is an extremely rare congenital disorder involving malformation of the limbs.
Pierre Robin syndrome Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin malformation, Pierre Robin sequence, Pierre Robin anomaly or Pierre Robin anomalad), is a ...
Plagiocephaly Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull.
Platybasia Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine.
Poland syndrome Poland syndrome (also Poland's syndrome, Poland's syndactyly, Poland sequence, and Poland's anomaly) is a rare birth defect characterized by underdevelopment or absence o...
Polydactyl cat A polydactyl cat is a cat with a congenital physical anomaly called polydactyly (or polydactylism, also known as hyperdactyly), a type of cat body-type genetic mutation that causes the cat to be...
Polydactyly Polydactyly or polydactylism, also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes.
Prune belly syndrome Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births.
Rachischisis Rachischisis is a developmental birth defect involving the neural tube.
Rapadilino syndrome Rapadilino syndrome is an autosomal recessive congenital disorder characterized by radial and patellar aplasia, short stature, arched or cleft palate, limb malformation, and dislocated joints.
Rhizomelia Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.
Rocker bottom foot Rocker bottom foot, also known as congenital vertical talus, is an anomaly of the foot.
Saddle nose Saddle nose is a condition associated with nasal trauma, congenital syphilis, relapsing polychondritis, Wegener's granulomatosis, cocaine abuse, and leprosy, among other conditions.
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...
Scaphocephaly Scaphocephaly (Pronunciation: skaf-O-sef-aly), derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted boat.
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.
Scoliosis Scoliosis (from) is a medical condition in which a person's spine is curved from side to side.
Spina bifida Spina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open.
Spinal curvature Although spinal curvature (or curvature of spine) can refer to the normal concave and convex curvature of the spine, in clinical contexts, the phrase usually refers to deviations from the ...
Spondylolisthesis Spondylolisthesis is the forward displacement of a vertebra, especially the fifth lumbar vertebra, most commonly occurring after a break or fracture.
Sprengel's deformity Sprengel's deformity is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other.
Syndactyly Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together.
Syngnathia Syngnathia is a congenital adhesion of the maxilla and mandible by fibrous bands.
Synostosis Synostosis means fusion of two bones, it can be normal in puberty, fusion of the epiphysis, or abnormal.
Synpolydactyly Synpolydactyly is a joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).
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 by craniofacial deformities, such as absent cheekbones.
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 by craniofacial deformities, such as absent cheekbones.
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...
Trigonocephaly Trigonocephaly (Greek: 'trigonon' = triangle, 'kephale' = head) is a congenital condition of premature fusion of the metopic suture (Greek: 'metopon' = forehead) leading to a triangular shaped f...
Tsukuhara syndrome Tsukuhara syndrome is an infrequently occurring skeletal dysplasia characterised by a caudal synostosis of the vertebra at birth.
Upington disease Upington disease, also called Perthes-like hip disease, enchondromata and ecchondromata, is an extremely rare autosomal dominant malformation disorder having only one publis...
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 Wallis–Zieff–Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects.
Webbed toes Webbed toes is the common name for syndactyly affecting the feet.