Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) is a complex hereditary disorder seen in gypsies.
Racial group affected: Roma (gypsies)
Inheritance: autosomal recessive
Location of genetic defect: 18q23
Gene affected: CTDPI (carboxy-terminal domain phosphatase 1)
(1) bilateral congenital cataracts
(5) peripheral neuropathy with hypomyelination
(6) impaired physical growth with short stature
(7) delayed early motor development
(8) mild cognitive impairment
(9) mild facial dysmorphism (prominent midface, hypognathism, forwardly-directed anterior dentition)
(10) hypogonadotropic hypogonadism
(11) recurrent parainfectious rhabdomyolysis
(13) cerebral and spinal cord atrophy
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