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Weill-Marchesani syndrome
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Weill-Marchesani syndrome

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Synopsis

Weill-Marchesani syndrome (WMS, congenital mesodermal dysmorphic dystrophy, spherophakia-brachymorphia syndrome) is a rare systemic connective tissue disease.

Primary clinical symptoms include short stature, ocular abnormalities, short fingers and toes, and joint stiffness. Microspherophakia (an ocular abnormality where ocular lenses are small and sphere-shaped, myopia presents gradually, and lenses may be malpositioned [ectopia lentis]) is characteristic. Most patients develop glaucoma. Rarely, an abnormal heart rhythm may occur.

WMS can be inherited in either the autosomal recessive or autosomal dominant pattern and is caused by mutations in the ADAMTS10 and FBN1 genes.

There is currently no cure. Treatment may require a multi-disciplinary approach and is directed toward the specific symptoms. Therapies are supportive and targeted toward improving quality of life. Genetic counseling may be suggested.

For more information, see OMIM.

Codes

ICD10CM:
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance

SNOMEDCT:
2884008 – Weill-Marchesani syndrome

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Last Updated: 03/29/2017
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Weill-Marchesani syndrome
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Weill-Marchesani syndrome : Joint stiffness, Short stature, Ectopia lentis
Clinical image of Weill-Marchesani syndrome
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