Congenital Limb Malformations (Subscribe)  

Mental and growth retardation, polysyndactyly. Nord Database

distinctive malformations of the head and facial (craniofacial) region and defects of the hands and feet. In some instances, mental retardation. unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within...

Web site of a support group for this joint condition Patient Provider

Also known as Acrocephalopolysyndactyly Type II. Craniosynostosis and polysyndactyly. NORD Database

Proximal femoral focal deficiency, PFFD, is a congenital anomaly of the pelvis and proximal femur which causes hip deformity and shortening and altered function of the involved lower extremity. The condition may be unilateral or bilateral and is often associated with other congenital anomalies.

Blount's Disease, The Alfred I. duPont Institute.

malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia); ocular hypertelorism

Dwarfism, Madelung Deformity. NORD Database
Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna...

short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. NORD Database

Goodman Syndrome (Acrocephalopolysyndactyly Type IV) is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. ACPS type IV. Nord Database

Craniofacial malformations, polysyndactyly. NORD Database.
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area. Characteristic digital features may include extra (supernumerary) fingers and/or toes (polydactyly), webbing and/or fusion of the fingers and/or toes (syndactyly),...

Craniofacial abnormalities. Broad great toes. Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family (kindred)....

Polydactyly, encephalocoele and polcystic kidneys. NORD database
Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the...

Vertebral and Craniofacial abnormalities. NORD Database (Goldenhar Syndrome)
Synonyms of Oculo-Auriculo-Vertebral Spectrum * FAV * Facio-Auriculo-Vertebral Spectrum * First and Second Branchial Arch Syndrome * Goldenhar-Gorlin Syndrome * OAV Spectrum * OAVS ...

Cleft lip and palate, hypoplasia and/or syndactyly. Mental retardation. Orocraniodigital syndrome is an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and toes (digits). Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside,...