Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described for WMS. A locus for AR WMS has recently been mapped to chromosome 19p13.3-p13.2 while mutation within the fibrillin-1 gene (15q21.1) was found in one AD WMS family. In order to answer the question of whether or not genetic heterogeneity could be related to a clinical heterogeneity, we reviewed 128 WMS patients from the literature (including 57 AR, 50 AD, and 21 sporadic cases), with a particular attention to clinical features. Statistical analyses using Fischer exact test were used to compare the proportions of 12 clinical parameters between AR and AD patients. There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. Significant results were found for microspherophakia (94% in AR, 74% in AD, Fischer 0.007), ectopia lentis (64% in AR, 84% in AD, Fischer 0.016), joint limitations (49% in AR, 77% in AD, Fischer 0.010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS.
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PMID:Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 1459 50

Weill-Marchesani syndrome (WMS) is a rare systemic connective tissue disorder with the systemic features of short stature, short and stubby hands and feet and stiff joints, especially in the hands. Occasionally, it is associated with heart defects and mental retardation. The main ocular features of WMS are microspherophakia (small and spherical crystalline lens), ectopia lentis (a displaced or malpositioned lens), severe myopia and glaucoma. Rare findings include asymmetric axial lengths associated with presenile vitreous liquefaction. A 14-year-old patient with WMS, who developed a secondary glaucoma and suffered visual loss from the ocular features of WMS, is described. The clinical findings and its successful management are also reported.
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PMID:Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. 1649 13