The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 
604168) is a recently described autosomal recessive developmental disorder. It 
is almost completely restricted to an endogamous group of the European Vlax Roma 
population, called the Rudari. The CCFDN syndrome is a complex phenotype 
involving multiple systems, characterized by facial dysmorphism, congenital 
cataracts, microcorneae, delayed early motor and intellectual development, 
hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, 
and serious complications related to general anaesthesia. This disorder is 
caused by a homozygous mutation of the carboxy-terminal domain phosphatase 1 
(CTDP1) gene, localized to the 18q23 region. Authors present one genetically 
identified case in a large Roma family. The case documents that the CCFDN 
mutation is present also in the Hungarian Roma population. Underlie of 
antropomorphological data the authors presume that the CCFDN mutation reached 
Hungary as a result of emigration of Vlax Gypsies in the 18th century. The paper 
calls attention to the fact that molecular genetic diagnostics can replace 
invasive methods and makes possible the identification of heterozygotes without 
clinical symptoms. The introduction of the genetic screening enables us to 
perform genetic counselling and prevention in this high-risk population.