| H01220 | |
| H number | H01220 |
| Name | Congenital cataracts, facial dysmorphism, and neuropathy |
| Description | Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive, complex developmental disorder exclusively manifested in the Roma population. CCFDN is a genetically homogeneous condition in which all patients are homozygous for the same ancestral mutation in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. |
| Category | Congenital malformation |
| Network | - |
| Gene | CTDP1 [HSA:9150] [KO:K15732] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C565822 OMIM: 604168 |
| Reference | PMID:21824574 AUTHORS Tzifi F, Pons R, Athanassaki C, Poulou M, Kanavakis E TITLE Congenital cataracts, facial dysmorphism, and neuropathy syndrome. JOURNAL Pediatr Neurol 45:206-8 (2011) DOI:10.1016/j.pediatrneurol.2011.05.008 PMID:16939648 AUTHORS Kalaydjieva L TITLE Congenital cataracts-facial dysmorphism-neuropathy. JOURNAL Orphanet J Rare Dis 1:32 (2006) DOI:10.1186/1750-1172-1-32 PMID:16194727 AUTHORS Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA TITLE Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. JOURNAL Pediatr Neurol 33:277-9 (2005) DOI:10.1016/j.pediatrneurol.2005.04.011 |