Short stature, mental retardation, eye anomalies, and cleft lip/palate.Am J Med Genet. 1992 Feb 15; 42(4):449-52.AJ
The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.