Apert syndromeQ87.0

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 11.11.2023

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Synonym(s)

Acrocephalosyndactyly Syndrome; OMIM 101200

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HistoryThis section has been translated automatically.

Apert 1906

DefinitionThis section has been translated automatically.

Autosomal dominant inherited, distinct skeletal dysplasia with premature ossification of the cranial sutures with midface hypoplasia, hypertelorism, dental anomalies, cleft palate and syndactyly of fingers and toes.

Furthermore, pubertas precox and varying degrees of acne.

In very rare cases, the acne efflorescences in this syndrome are arranged in stripes. This epidermal nevus, known as "acne nevus type Munro", is caused by a postzygotic FGFR2 mutation.

EtiopathogenesisThis section has been translated automatically.

mutations of the fibroblast growth factor receptor -2 (FGFR2).

TherapyThis section has been translated automatically.

Genetic counseling. Plastic surgery correction as far as possible.

Authors

Last updated on: 11.11.2023

Author: Prof. Dr. med. Peter Altmeyer