Congenital cataracts facial dysmorphism neuropathy (CCFDN)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital cataracts facial dysmorphism neuropathy (CCFDN). This is caused by mutations in the CTDP1 gene on chromosome 18.
Genetics
- This is caused by mutations in the CTDP1 gene on chromosome 18
- The gene encodes a protein phosphatase
- It occurs exclusively in Roma gypsies
- The transmission is autosomal recessive
Main clinical features
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Other ocular features
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Other features
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investigations
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References
- Walter MC, Bernert G, Zimmermann U, et al. Long-term follow-up in patients with CCFDN syndrome. Neurology 2014; 83:1337-1344.
- Müllner-Eidenböck A, Moser E, Klebermass N, et al. Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology 2004; 111:1415-1423.
- Kalaydjieva L. Congenital cataracts-facial dysmorphism-neuropathy. Orphanet J Rare Dis 2006; 1:32.
