Carpenter Syndrome: Report of Two Cases

Abstract

Carpenter syndrome (MIM 201000) is a rare autosomal recessive disorder characterized by combination of acrocephaly, syndactyly and brachydactyly in the hands as well as syndactyly and preaxial polydactyly of the toes. Other variable features can be present. 100 patients have been reported until now, with 14 mutations in the conserved sequence encoding the ras-like in rat brain 23 (RAB23) gen identified. We report here two Moroccan cases with a typical clinical picture of carpenter syndrome.