Pfeiffer syndrome


A very rare genetic disorder characterized by abnormalities of the craniofacial area, distinctive malformations of the fingers and toes, and additional physical abnormalities. Also known as Pfeiffer syndrome, this disorder is generally accepted to be the same disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). The Acrocephalosyndactyly disorders are a group of very rare genetic disorders characterized by premature closure of the cranial sutures between certain bones of the skull, causing the top of the head to appear abnormally pointed, and webbing or fusion of certain fingers and/or toes.