Apert syndrome

The Apert syndrome, also called acrocephalosyndactyly, is a genetic feature based on a mutation of the FGFR2 gene on chromosome 10, which leads to various physical malformations. Was named the syndrome in 1896 after the French pediatrician Eugene Apert. It belongs to the group of craniofacial malformations, which also includes the Carpenter syndrome, Crouzon syndrome, Pfeiffer syndrome Saethre - Chotzen and the syndrome include.

Frequency

In Germany, about 400 people living with the syndrome. The incidence is approximately 1:1,000,000, for all five syndromes together at 1:90.000.

Symptoms and characteristics

Are possible:

• Head area: Fusion of the skull bones with the risk of pressure on the brain and the formation of hydrocephalus
• Malformation of the maxilla
• Open cleft palate
• Impaired hearing
• Visual impairment
• Disabled respiration

• Webbed fingers and toes ( always occurs symmetrically on )
• Stiffened or missing interphalangeal joints

• Restricted movement in many joints
• Curvature of the spine (scoliosis )

• Problems in social and emotional development ( " different" )

Diagnostics

In the prenatal diagnosis of typical characteristics can be noticed in the early stages of pregnancy in the context of fine ultrasound. The symptoms frequently are not interpreted correctly because of the rare occurrence of the syndrome. A diagnosis is before birth through the examination of the amniotic fluid is possible, provided that a reasonable suspicion exists and is tested specifically for Apert syndrome. Nachgeburtlich most physical features are obvious, a molecular genetic analysis can confirm the diagnosis.

Treatment

Immediate or as soon as possible treatment by specialists are extremely important for the development of children and the prevention of secondary damage. Foremost among these are mainly:

• Closed cranial sutures require most likely Skull surgery to prevent lack of space for the growing brain.
• Separation operations on fingers and toes.
• Studies on respiratory, ear, cleft palate, ...
• Contact the parents' initiative

Inheritance

The mode of inheritance is autosomal dominant with complete penetrance and high variance ( the expression becomes very variable depending on the mutation and the individual )

• Fibroblast growth factor receptor ( FGFR2 ) gene
• Activate the receptor, and mutations that enhance mainly the signal changes in the differentiation of bone and cartilage tissues
• 80 % new mutations, paternal age effect

The hypochondroplasia (lighter manifestation ) and thanatophoric dysplasia ( severe and lethal form of manifestation ) have mutations in the same FGFR3 gene.