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MedGen for PubMed (Select 18849081)

Items: 2

1.

Weill-Marchesani syndrome 1

Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive and autosomal dominant WMS cannot be distinguished by clinical findings alone. [from GeneReviews]

MedGen UID:
358270
Concept ID:
C1869114
Disease or Syndrome
2.

Tibia, Hypoplasia of, with Polydactyly

MedGen UID:
348786
Concept ID:
C1861098
Disease or Syndrome

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