Other features include a small jaw, flattening of the nasal bridge and the middle third of the face, and a beaked nose.
Jackson-Weiss Syndrome (JWS) is a infrequent genetic disorder characterized by foot abnormalities. The feet show very broad big toes and webbing of the skin between the second and third toes. Additionally, the toes are angled inward. Bony foot defects apparent on X ray comprise short, extensive foot bones and fusion of some of the foot and ankle bones. The hallmark skull differences associated with JWS are caused by the premature closure of skull sutures, or skull plates.
People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span. 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. Mutations in the FGFR2 gene cause Jackson-Weiss syndrome.
The FGFR2 gene produces a protein called fibroblast increase factor receptor 2. Among its several functions, this protein signals immature cells to become bone cells in a developing origin and fetus. A change in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which promotes the premature fusion of bones in the skull and feet. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Treatment of Jackson-Weiss syndrome is usually treated by doctors and therapists who specialize in head and neck disorders.
