Congenital cataracts facial dysmorphism neuropathy syndrome 276

General: Autosomal recessive; motor and sensory neuropathy.

Ocular: Congenital cataracts, microcorneas, strabismus, pendular nystagmus, bilateral blepharoptosis.

Clinical: Patients are recognized in infancy by the presence of congenital cataracts and microcorneas; initially, a predominantly motor neuropathy begins in the lower limbs followed by upper limb involvement; severe disability occurs by the third decade; short stature, moderate nonprogressive cognitive deficits, pyramidal signs, and mild chorea are characteristic.

Mullner-Eidenbock A, Moser E, Klebermass N, et al. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology 2004; 111: 1415-23.

Tournev I, et al. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: Clinical and electrophysiological observations. Am J Ophthalmol 1999; 128:536-537.