During a study of hereditary motor and sensory neuropathy-Lom in Bulgaria, a 
previously unrecognized neurological disorder was encountered, mainly in 
Wallachian Gypsies, who represent a relatively recent genetic isolate. The 
disorder has been termed the congenital cataracts facial dysmorphism neuropathy 
(CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 
extended pedigrees were identified and examined clinically and 
electrophysiologically. At least 1 patient from each family was admitted to the 
hospital in Sofia for full investigation. Pedigree analysis indicates autosomal 
recessive inheritance. The disorder is recognized in infancy by the presence of 
congenital cataracts and microcorneas. A predominantly motor neuropathy 
beginning in the lower limbs and later affecting the upper limbs develops during 
childhood and leads to severe disability by the third decade. Associated 
neurological features are a moderate nonprogressive cognitive deficit in most 
affected individuals together with pyramidal signs and mild chorea in some. 
Accompanying nonneurological features include short stature, characteristic 
facial dysmorphism, and hypogonadotrophic hypogonadism. Nerve conduction studies 
suggest a hypomyelinating/demyelinating neuropathy, confirmed by nerve biopsy. 
The CCFDN syndrome is thus a pleomorphic autosomal recessive disorder displaying 
a combination of neurological and nonneurological features.