" /> Type I Acrocephalosyndactyly - CISMeF





Preferred Label : Type I Acrocephalosyndactyly;

NCIt synonyms : Apert Syndrome;

NCIt related terms : Acrocephalosyndactyly Type I;

NCIt definition : An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.;

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28/07/2025


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