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type I acrocephalosyndactyly

См. также в других словарях:

  • 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

  • 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… …   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 type I — Apert syndrome …   Medical dictionary

  • acrocephalosyndactyly type III — Chotzen syndrome …   Medical dictionary

  • acrocephalosyndactyly type V — Pfeiffer syndrome …   Medical 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

  • Pfeiffer syndrome — A form of craniosynostosis that results in multiple physical defects, including broad thumbs and great toes; depressed nasal bridge and generally flat profile; low set, slanted ears;, strabismus; and a prominent mandible. There may also be… …   Medical dictionary

  • Fibroblast growth factor receptor 2 — PDB rendering based on 1djs …   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

  • FGFR2 — A mutation (change) in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10 causes the best known type of acrocephalosyndactyly, namely Apert syndrome which is characterized by abnormalities of the skull and face and the hands… …   Medical dictionary

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