Apert syndrome acrocephalosyndactyly
An inherited disorder causing abnormalities of the skull, face and hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) and an abnormally shaped face (with shallow eye sockets and underdevelopment of the midface). There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful with the skull, face, hands and feet. The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits.

Medical dictionary. 2011.

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  • Apert syndrome — Infobox Disease Name = Apert syndrome Caption = DiseasesDB = 33968 ICD10 = ICD10|Q|87|0|q|80 ICD9 = ICD9|755.55 ICDO = OMIM = 101200 MedlinePlus = 001581 eMedicineSubj = ped eMedicineTopic = 122 MeshID = D000168 Apert syndrome, virtually… …   Wikipedia

  • Apert syndrome — The best known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases,… …   Medical dictionary

  • Apert syndrome — a hereditary disorder characterized by craniosynostosis, underdevelopment of the midfacial tissues resulting in a sunken facial appearance, and syndactyly (fusion) of 2–5 digits (‘mitten glove’). Variable mental retardation and cleft palate… …   The new mediacal dictionary

  • Acrocephalosyndactyly — An inherited disorder causing abnormalities of the skull and face and the hands and feet. In acrocephalosyndactyly there is closure too early of some of the sutures of the skull (craniosynostosis). This results in an abnormally shaped head, which …   Medical dictionary

  • acrocephalosyndactyly type I — Apert syndrome …   Medical dictionary

  • Syndrome, Apert (acrocephalosyndactyly) — An inherited disorder with abnormalities of the skull and face and the hands and feet. There is premature closure of the sutures of the skull (craniosynostosis). This results in an abnormal head shape, which is unusually tall but short from front …   Medical dictionary

  • acrocephalosyndactyly — ▪ congenital disorder also called  Apert syndrome        congenital malformation of the skeleton affecting the skull and limbs. The disorder most often is hereditary, but it may appear spontaneously. The head appears pointed (acrocephaly) because …   Universalium

  • acrocephalosyndactyly — n. any one of a group of related inherited disorders, including Apert syndrome, resulting in abnormalities of the skull (craniosynostosis), face, and hands and feet (syndactyly) …   The new mediacal dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Saethre-Chotzen syndrome — Classification and external resources OMIM 101400 DiseasesDB 29331 MeSH …   Wikipedia

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