acrocephalosyndactyly type V
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acrocephalosyndactyly type I — Apert syndrome … Medical dictionary
acrocephalosyndactyly type III — Chotzen syndrome … Medical 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
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
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
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
Saethre-Chotzen syndrome — Classification and external resources OMIM 101400 DiseasesDB 29331 MeSH … Wikipedia
Chotzen syndrome — an autosomal dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis, and sometimes mental retardation. Called also acrocephalosyndactyly, type III and Saethre Chotzen s … 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