Acrocephalosyndactyly, Type 1
Type of disease: Rare conditions
Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beaked nose; an underdeveloped upper jaw leading to crowded teeth and other dental problems; and shallow eye sockets which can cause vision problems); polydactyly; hearing loss; hyperhidrosis (increased sweating); and other symptoms. Cognitive abilities in affected individuals range from normal to mild or moderate intellectual disability. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. Management typically includes various surgical procedures that are tailored to the affected individual’s needs. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.