Rosh Ravinath

All articles by Rosh Ravinath

Apert Syndrome (acrocephalosyndactyly, type 1)

Apert [syndrome synonym: acrocephalosyndactyly, type 1, ACS1 or ACSI] Apert syndrome (AS) is an uncommon autosomal dominant disease affecting about 1 in 65,000 individuals characterized by craniosynostosis, midface hypoplasia, and symmetric syndactyly of the hands and feet. The majority of cases are caused by de-novo activating mutations of the fibroblast growth factor receptor 2 (FGFR2)…

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