Jackson Weiss Syndrome
Jackson-Weiss Syndrome is a rare condition, so rare in fact there are no published statistics. The condition is a genetic disorder that is caused by a mutation in chromosome 10, the FGFR10 gene, and is responsible for defects in the face, feet, and head.
It affects both males and females equally and may appear as the first time in a family, or be passed down from generation to generation. Intelligence and life expectancy are typically normal. Babies born with Jackson-Weiss Syndrome have a skull that fuses together too early, called craniosynostosis. This causes a bulging forehead, misshapen skull, widely spaced eyes, and a very flat middle section of the face.
Foot deformities are common in those who have Jackson-Weiss Syndrome and may include:
- Wide, short, big toes.
- Big toe bends away from other toes.
- Bones of some toes may be fused together.
- Webbing of toes.
Treatment is generally surgical and targets the specific deformity.