Cataract mental retardation hypogonadism
Overview
A familial syndrome associated with a very long list of defects
Symptoms
mental deficiency, short stature, gonadal hypofunction, "old looking" (progeroid) face, cataracts, microcephaly, brachycephaly, hypertelorism, low nasal bridge, talipes valgus, and short ulna.
Causes
The syndrome is transmitted as an autosomal recessive trait and has been reported to occur in consanguineous parents. The syndrome seems to appear mainly in patients of Jewish descent, but is also reported in other ethnic groups.