Weill–Marchesani syndrome
Rare generic disorder / From Wikipedia, the free encyclopedia
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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. It was named after ophthalmologists Georges Weill (1866–1952) and Oswald Marchesani (1900–1952) who first described it in 1932 and 1939, respectively.
Weill–Marchesani syndrome | |
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Other names | Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, GEMSS syndrome |
A six-year-old girl with Weill-Marchesani syndrome, which has caused a dislocated lens. | |
Specialty | Ophthalmology, rheumatology, medical genetics |
The eye manifestations typically include unusually small, round lenses of the eyes (microspherophakia), which 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. Weill–Marchesani syndrome may have autosomal recessive inheritance involving the ADAMTS10 gene, or autosomal dominant inheritance involving the FBN1 gene.[1] In some cases there is no association with either of these genes.[1]