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01.12.2014 | Research | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Petra Lassuthova, Dana Šišková, Jana Haberlová, Iva Sakmaryová, Aleš Filouš, Pavel Seeman
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-46) contains supplementary material, which is available to authorized users.

Competing interests

The authors report no competing interests.

Authors’ contributions

PL and PS wrote the manuscript. JH, PS and DS performed clinical examination of the patients. JH and DS performed also the Nerve conduction studies. DS and PS collected the patients. AF performed the ophthalmological examination as well as cataract surgery in all patients. PS designed the study. All authors read, revised and approved the final version of the manuscript.



Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed.


We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed.


All patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene.
All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild.


Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.
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