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Weill Marchesani Syndrome
Condition Overview: Weill-Marchesani syndrome is a rare, genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. These typically include unusually small, round lenses of the eyes (spherophakia) that may be prone to dislocating (ectopia lentis) as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness (myopia) to blindness. Researchers suggest that Weill-Marchesani syndrome may have autosomal recessive or autosomal dominant inheritance.. |
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