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Updated: May 30, 2026

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Published on: September 8, 2023
Congenital cataracts, facial dysmorphism, and neuropathy syndrome
Flora Tzifi1, Roser Pons, Corina Athanassaki
1First Department of Pediatrics, National Kapodistrian University of Athens, Children's Hospital Aghia Sophia, Athens, Greece. fltzifi@med.uoa.gr
Abstract:
Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. We present the second case of this syndrome in a Greek Roma family, diagnosed in early infancy, along with the prenatal diagnosis in a subsequent pregnancy.
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