Acrocephalosyndactylia

Craniofacial malformations are complex malformations with significant effects on the sufferers who have long been known. 1894 described by French physician Eugene Apert first this kind of malformation together with Zusammenwachsungen the fingers and toes - which was named after him Apert syndrome.

In Germany about 400 victims, 250 of them children and young people. The incidence is approximately at 1:90000 births.

Formation

Craniofacial malformations are the result of genetic changes that are present before birth. The five most common syndromes are:

  • The Apert syndrome
  • The Pfeiffer syndrome
  • The Crouzon syndrome
  • The Carpenter syndrome
  • And the Saethre - Chotzen syndrome

Typical of all five malformations are abnormalities of the head and mid-face area and the musculoskeletal system in various forms.

Treatment

The most prominent form of craniofacial malformations is Apert syndrome which also additionally, partially bony fingers and toes are grown together.

Bony deformities are through consuming operations partially correctable. The mental development can proceed normally. However, frequent developmental abnormalities varying degrees was observed.

Today's treatments are not perfect, but an extraordinary increase to what was available 20 years ago and there is hope that in the future too rapid progress to be made.

But in the present is still a large group of doctors and therapists necessary to allow a treatment that gives people the opportunity to a contented life.

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