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Short stature/dwarfism, mental retardation, severe myopia, iris hypoplasia, cataracts, and increased body hair.

Dwarfism, Mental Retardation, and Eye Abnormality.

Only three cases described. The mode of inheritance is uncertain but most probably autosomal recessive.

Short stature/dwarfism, mental retardation, microcephaly, and ocular abnormalities, including iris hypoplasia, nuclear cataracts, and severe myopia. The related syndromes are listed, but review showed overlapping manifestations. Increased body hair.

Usually the microcephaly does not lead to airway difficulties.

Rodrigues Blindness: Severe mental retardation and ocular malformations including microphthalmos, short stature, dysmorphic facial features (narrow nasal bridge, prominent ears), and malaligned teeth.

CAHMR Syndrome: Hypertrichosis, most often in the face and shoulders. Individuals affected have congenital lamellar cataracts.

Martsolf Syndrome (Cataract, Mental Retardation, and Hypogonadism Syndrome): Short stature, minor digital and cephalic abnormalities. Microcephaly occasional. One patient reported with cardiomyopathy and another with cardiac failure.

Mollica F, Pavone L, Antener I: Short stature, mental retardation and ocular alterations in three siblings. Helv Paediatr Acta 27:463, 1972.  [PubMed: 4640901]

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