Apert syndrome

Apert syndrome is a rare hereditary disorder characterized by premature fusion of the skull bones, facial deformities, and fusion of the fingers of the hands or feet. The occurrence of this syndrome is rare — 1 child out of 200,000 newborns. The disease is hereditary — an affected individual has a 50% risk that his or her children will also be affected by Apert syndrome.

Cause:
Apert syndrome arises from a mutation of the gene responsible for the proper development and function of connective tissue. A risk factor for the occurrence of this mutation is the age of the father — above 30 years.

Diagnosis:
The disease is diagnosed through clinical examination. If the symptoms listed below are present, genetic testing may be performed.

Treatment:
Treatment of symptoms requires broad cooperation among surgeons, neurologists, pediatricians, and others. Essential is the release of prematurely fused cranial sutures by a neurosurgeon.

• premature fusion of skull bones at the cranial sutures
• increased intracranial pressure – vomiting and headache
• wheezing during breathing (a harsh, coarse sound audible from a distance)
• breathing pauses during sleep
• distorted / misshapen shape of the skull
• deviations from the natural facial shape (facial deformity)
• high forehead
• sunken / recessed midface
• flat skull
• deformities of the orbital bones
• visual impairments
• depressed nasal bridge
• dental abnormalities
• deformities of the upper and lower limbs
• shortened humerus
• syndactyly (fusion of fingers)
• restricted mobility of the elbow
• knock‑knees (genu valgum)
• intelligence may be normal, or mental retardation of varying degrees may be present
• presence of various congenital malformations of internal organs