Synonym(s)
Acrocephalosyndactyly Syndrome; OMIM 101200
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.
Recommended articles
Incoming links (5)
Acneneevus type munro; Acrocephalosyndactyly; Ebstein anomaly; Epidermal nevus organoid; Syndicate;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer