Acrocephalosyndactyly Syndrome: A Rare Case Report

Abstract

Acrocephalosyndactyly or Apert syndrome is a rare disorder in which the fingers and toes are fused,
giving the appearance of webbed hand and feet. Also, there is craniosynostosis, leading to severe mid-face
hypoplasia and characteristic facial deformities. Here there is a genetic mutation in the fibroblast growth
factor receptor 2 (FGFR2) gene with autosomal dominant inheritance. A case of an 8-year-old male child is
reported here with frontal bossing, acrocephaly, prominent ocular hypertelorism with divergent strabismus,
saddle-shaped nose, mid-face hypoplasia, crowded anterior teeth, sparse hair and severe bilateral syndactyly
of the feet and hands.