Home > Encyclopedia of Genetic Disorders > Jackson-Weiss syndrome

Definition

Jackson-Weiss syndrome (JWS) is a hereditary disease of varying severity affecting the skull, the face, and the feet. JWS is inherited in an autosomal dominant manner.

Description

Jackson-Weiss syndrome is characterized by a small midface, unusual skull shape, and foot abnormalities. The feet display very wide 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 include short, wide 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. Other features include a small jaw, flattening of the nasal bridge and the middle third of the face, and a beaked nose. The...