Type I Acrocephalosyndactyly

**Semantic type:** Congenital Abnormality

**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.

**Synonyms:** - Acrocephalosyndactyly Type I - Apert Syndrome