Disease Information for Acrocephalopolysyndactyly (Pfeiffer I)

Pfeiffer Syndrome Type I; Acrocephalosyndactyly Type I, Subtype I; Acrocephalosyndactyly V (ACS5 or ACS V), Subtype I; Classic Type Pfeiffer Syndrome; Noack Syndrome, Type I; Pfeiffer Syndrome is a very rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area, distinctive malformations of the fingers and toes (digits), and/or additional physical abnormalities; This disorder, which is also known as Acrocephalosyndactyly Type V, is generally accepted to be the same disorder as Noack Syndrome (or Acrocephalopolysyndactyly Type I); The acrocephalosyndactyly (ACS) disorders are a group of very rare genetic disorders characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear abnormally pointed (acrocephaly), and webbing or fusion of certain fingers and/or toes (syndactyly); According to the medical literature, researchers have recognized three subtypes of Pfeiffer Syndrome: namely, Pfeiffer Syndrome Types I, II, and III; Major findings that may be associated with all forms of the disorder include premature fusion of certain cranial sutures (craniosynostosis), abnormally broad thumbs and great toes that may bend outward (varus deformity), and syndactyly of certain fingers and toes; The range and severity of associated symptoms and findings may vary greatly from case to case; In most infants with Type I, or Classic Type Pfeiffer Syndrome, craniosynostosis causes the head to appear short and unusually pointed at the top (turribrachycephaly); Affected infants and children typically have craniofacial abnormalities including an unusually high, full forehead; a flattened middle portion of the face (midface hypoplasia); a small nose with a flattened bridge; widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla), causing the lower jaw to appear unusually prominent (relative mandibular prognathism); and/or dental abnormalities; Individuals with Pfeiffer Syndrome Type I also have digital abnormalities including the malformations mentioned above (ie, abnormally broad thumbs and great toes that may bend outward [varus deformity] and syndactyly); Intelligence is usually normal; In some cases, Pfeiffer Syndrome Type I may be due to new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic); In other cases, the disorder may be inherited as an autosomal dominant genetic trait; [NORD 2005]

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