++
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]