Weill-Marchesani syndrome

Weill-Marchesani syndrome is a rare genetic disorder characterised by short stature, an unusually short and broad head, other facial differences, short fingers and distinctive eye abnormalities. The eyes typically have unusually small, round lenses that may be prone to dislocating, and affected people can have varying degrees of visual impairment, from nearsightedness to blindness. It may be inherited in an autosomal recessive pattern involving the ADAMTS10 gene or in an autosomal dominant pattern involving the FBN1 gene, and in some cases neither gene is involved. It is named after the ophthalmologists Georges Weill and Oswald Marchesani, who first described it in 1932 and 1939 respectively. This entry is a reference record and not medical advice.