Associated disorders may include dolichomicrocephaly, small forehead and prominence of he supraorbital ridges, small face, and mandibular prognathism. Pigmentary degeneration of the retina, occasional cataracts, optic disk atrophy, myopic astigmatism, coloboma, strabismus, microphthalmia, downslanting palpebral fissures, and blepharoptosis. Arachnodactyly with long and slender hands and feet, syndactyly cubitus valgus, clinodactyly, of the fifth fingers, dorsiposition of the fourth toe, and wide gap between the hallux and second toe. Diminished muscle strength and hypotonia.
Dermatoglyphic findings show simian crease and t' axial triradius.
Dolichomicrocephaly, spastic cerebral palsy. The syndrome is familial and is transmitted as an autosomal recessive trait. Consanguinity is a factor in some but not all cases.