Apert Syndrome.

Apert syndrome 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 Apert Syndrome also have a cleft palate. Other
associated problems may include ear infections, problems with vision, and noisy
breathing.

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.

Apert Syndrome is caused by a genetic mutation in the FGFR2 gene on chromosome 10

early in pregnancy. Studies suggest that Apert Syndrome occurs more often in
children with older fathers. Apert Syndrome occurs in 1 in 100,000 to 160,000 live
births.

This information is available from www.cleft.ie