Number of the records: 1  

Weillov-Marchesaniho syndróm

  1. Subject h.Weillov-Marchesaniho syndróm
    Subject h.Weill-Marchesani Syndrome
    Entry termsdysmorfodystrofia mezodermálna kongenitálna
    dysmorfodystrofia mezodermálna vrodená
    syndróm sférofakie a brachymorfie
    Weill Marchesaniho syndróm
    Weillov-Marchesaniho syndróm, autozomálne recesívny
    Weillov-Marchesaniho syndróm, autozómovo recesívny
    English X referencesMesodermal Dysmorphodystrophy, Congenital
    Spherophakia Brachymorphia Syndrome
    Weill Marchesani Syndrome
    Weill-Marchesani Syndrome, Autosomal Recessive
    Scope note in EnglishRare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.
    See also reference (FX) in Slovak Marfanov syndróm
    See also reference (FX) in English Marfan Syndrome
    Links (1) - MeSH descriptor
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Number of the records: 1  

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