Apert Syndrome
Posted on May 21st, 2008
Apert syndrome (AP) is a rare genetic disorder which involves distortion of the head and face and webbing of the hands and feet. Characteristics include prematurely fused cranial sutures, sunken mid-face, fused fingers and toes, short wide head, high prominent forehead, flattened back of skull, and prominent eyes. About 30% of children diagnosed as having AP also have a cleft palate. Other associated problems may include ear infections, problems with vision, and noisy breathing.1
Early surgery to separate the plates in the skull releases pressure and allows for brain growth. A surgical procedure known as the LeFort procedure is carried out when the child has grown substantially to correct the concave appearance of the mid-face region. Surgery is also carried out to separate the fingers, though it is not usually carried out to separate the toes unless they inhibit movement.
AP is caused by a genetic mutation in the FGFR2 gene on chromosome 10 early in pregnancy. Studies suggest that AP occurs more often in children with older fathers. AP occurs in 1 in 100,000 to 160,000 live births.2
- FACES: The National Craniofacial Association (USA) http://www.faces-cranio.org/Disord/Apert.htm [link verified 13 May 2007] [↩]
- Special Child by The Resource Foundation for Children with Challenges (RFCC) (USA) http://www.specialchild.com/archives/dz-020.html [verified 13 May 2007] [↩]
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