Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations
1999
During a study of
hereditary motorand
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 dysmorphismneuropathy (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 neuropathybeginning in the lower limbs and later affecting the upper
limbs developsduring 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 signsand mild
choreain some. Accompanying nonneurological features include
short stature, characteristic
facial dysmorphism, and
hypogonadotrophic hypogonadism.
Nerve conduction studiessuggest 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. Ann Neurol 1999;45:742–750
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