OWL: Orthopedic Topics/Paediatric Orthopaedics/Congenital Limb Malformations

Acrocallosal Syndrome

Not Available — 2005-07-16 17:13:38 GMT

Mental and growth retardation, polysyndactyly. Nord Database

Apert Syndrome

Not Available — 2005-07-16 17:13:38 GMT

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 the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly). NORD Database

Arthrogryposis Multiplex Congenita

Melissa Schmidt — 2002-01-11 17:13:38 GMT

Web site of a support group for this joint condition

Carpenter Syndrome

Not Available — 2005-07-16 17:13:38 GMT

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

Case 41. Proximal Femoral Focal Deficiency

Magdy Abdel-Mota'al — 2002-02-04 17:13:38 GMT

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.

Case 55. Blount's Disease

STEVEN R. BOYEA, M.D — 2002-02-04 17:13:38 GMT

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

Craniofrontonasal dysplasia

Not Available — 2005-07-16 17:13:38 GMT

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

Dyschondrosteosis

Not Available — 2005-07-16 17:13:38 GMT

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 (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large bone of the upper arm (humerus); abnormal bony growths projecting outward from the surface of the shin bones (exostoses of the tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (i.e., coxa valga). Dyschondrosteosis appears to affect females more severely than males. The disorder is inherited as an autosomal dominant or "pseudoautosomal" trait.

Ellis Van Creveld Syndrome

Not Available — 2005-07-16 17:13:38 GMT

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

Not Available — 2005-07-16 17:13:38 GMT

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

Greig Cephalopolysyndactyly Syndrome

Not Available — 2005-07-16 17:13:38 GMT

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), and/or additional abnormalities. Craniofacial malformations associated with this disorder may include a large and/or unusually shaped skull; a high, prominent forehead (frontal bossing); an abnormally broad nasal bridge; widely spaced eyes (ocular hypertelorism); and/or other physical abnormalities. The range and severity of symptoms may vary greatly from case to case. In most cases, GCPS is inherited as an autosomal dominant trait.
Synonyms of Greig Cephalopolysyndactyly Syndrome * Frontodigital Syndrome (obsolete) * GCPS * Hootnick-Holmes Syndrome (obsolete) * Polysyndactyly with Peculiar Skull Shape * Polysyndactyly-Dysmorphic Craniofacies, Greig Type

Jackson Weiss Syndrome

Not Available — 2005-07-16 17:13:38 GMT

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). However, primary findings may include premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis); unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In other affected individuals, the disorder may be inherited as an autosomal dominant trait.

Meckel's Syndrome

Not Available — 2005-07-16 17:13:38 GMT

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 back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait.

Oculo-Auriculo-Vertebral Spectrum

Not Available — 2005-07-16 17:13:38 GMT

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 * Oculo-Auriculo-Vertebral Dysplasia Disorder Subdivisions * Goldenhar Syndrome * Hemifacial Microsomia (HFM) * Oculo-Auriculo-Vertebral Disorder

Orocraniodigital Syndrome

Not Available — 2005-07-16 17:13:38 GMT

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, upper portion of the mouth (cleft palate), an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes. In some cases, malformations of certain skeletal bones may also be present. Mental retardation has occurred in the majority of cases. Orocraniodigital syndrome may be inherited as an autosomal recessive genetic trait. NORD Database