Jackson-Weiss syndrome

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Jackson-Weiss syndrome is a rare genetic disorder caused by mutation in the FGFR2 gene on chromosome 10 characterized by foot abnormalities and the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face.

The condition has been described in two large families by Jackson and Weiss and Escobar and Bixler, 1977

Jackson-Weiss syndrome’s baby has the sign and symptoms of misshapen skull, widely spaced eyes, bulging forehead, and underdeveloped middle area of the face (midface hypoplasia)  due to the craniosynostosis (premature fusion  of skull bones) and also have  wide big toes that curve inward toward each other. The large bones of the foot may be fused or abnormally shaped. Individuals with Jackson-Weiss syndrome usually have normal hands, normal intelligence.

Characteristic facial features and unusual toes obvious to diagnosed Jackson-Weiss syndrome’s but x-ray are also important. DNA testing for genetic mutation is the definite diagnosis.

There is no cure or medication for Jackson-Weiss syndrome. Multiple-stage surgery always offered to correct the most severe physical complications, like cleft palate.

Person with the Jackson-Weiss syndrome have good prognosis and normal intelligence.

The National Craniofacial Association has contact information for craniofacial medical teams and also provides financial support for nonmedical expenses of individuals traveling to a center for treatment.

Reference:

  • www.emedicinehealth.com
  • emedicine.medscape.com
  • www.medicinenet.com
  • en.wikipedia.org
  • www.nlm.nih.gov
  • www.google.com/health

2 Responses to “Jackson-Weiss syndrome”

  1. Anonymous says:

    This is what one of my 9 month old twin girls was born with.

  2. Anonymous says:

    Lisa, i want to know hows are they now? and what treatment are they offered ?

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