acrocephalosyndactyly

acrocephalosyndactyly

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 of premature closing of the cranial sutures between the individual bones that make up the skull. The bones and skin of several adjacent fingers or toes may be fused (syndactyly); in some cases all five digits may fuse. Deformity of the skull causes the eyes to bulge because the eye sockets are shallower than normal. Other congenital abnormalities, such as heart defects, also may be present. Treatment includes surgical correction of the skull. The disease was first described by the French pediatrician Eugène Apert. See also craniosynostosis.

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Universalium. 2010.

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  • 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 — 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

  • acrocephalosyndactyly type I — Apert syndrome …   Medical dictionary

  • acrocephalosyndactyly type III — Chotzen syndrome …   Medical dictionary

  • acrocephalosyndactyly type V — Pfeiffer syndrome …   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

  • 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

  • Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …   Википедия

  • 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

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