Crouzon syndrome

The Crouzon syndrome ( Crouzon 's disease ) describes a genetic disorder that causes premature ossification of the cranial sutures ( craniosynostosis ) in children. The head growth then takes place in the direction of the remaining open cranial sutures, which can lead to a deformity of the skull. Also typical are laterally sloping palpebral fissures. The autosomal dominant disease Crouzon described in one of 25,000 births and can be corrected by one or more surgical intervention in childhood. The mental development of children affected usually runs normally.

Cause

Crouzon syndrome is 10 ( 10q26 ) in a gene coding for the so-called fibroblast growth factor receptor 2 ( FGFR2 ), caused by an autosomal dominant change (mutation ) in the long arm of the chromosome.

Symptoms

Crouzon syndrome is characterized by clinically

• Skull deformities
• Exophthalmos ( protrusion of the eyeballs )
• Hypertelorism ( increased eye relief )
• Divergent strabismus ( squint)
• Maxillary retrusion ( Oberkieferhypoplasie )
• Protruding lower lip

From.