Apert's syndrome


Apert's syndrome
Аперта синдром

Англо-русский офтальмологический словарь. 2010.

Смотреть что такое "Apert's syndrome" в других словарях:

  • Syndrome de rubinstein-taybi — Autre nom Syndrome des gros pouces et des gros orteils Référence MIM …   Wikipédia en Français

  • Syndrome de Rubinstein-Taybi — Référence MIM 180849 Transmission Dominante Chromosome 16p13.3 22q13 Gène CREBBP EP300 Empreinte parentale …   Wikipédia en Français

  • 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

  • Syndrome d'Apert — La maladie d’Apert est une craniosynostose en rapport avec une mutation du gène FGFR2. Cette mutation du gène FGFR2 est responsable d’autres craniosynostose regroupées sous le nom de craniosynostose FGFR dépendante. Les sutures du crâne qui… …   Wikipédia en Français

  • Apert-Syndrom — Klassifikation nach ICD 10 Q87.0 Angeborene Fehlbildungssyndrome mit vorwiegender Beteiligung des Gesichtes Akrozephalosyndaktylie Syndrome (Apert) …   Deutsch 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 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 — 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

  • 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

  • Apert — Eugène, French pediatrician, 1868–1940. See A. syndrome …   Medical dictionary


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