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genetic disorder causing premature skull bone fusion and syndactyly

Apert Syndrome is a genetic disorder characterized by the premature fusion of certain skull bones, leading to a distorted shape of the head and face. This condition often results in syndactyly (webbing of fingers and toes) and can be associated with other issues such as hearing loss, vision problems, and intellectual disability. It is caused by mutations in the FGFR2 gene and is typically diagnosed through clinical evaluation and genetic testing.

Related Terms

• Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
• IFAP Syndrome
• PAPA Syndrome
• Gorlin Syndrome
• Atrichia with Papular Lesions
• Olmsted Syndrome
• HAIR-AN Syndrome
• KID Syndrome