Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex 
developmental disorder of autosomal recessive inheritance. To date, CCFDN has 
been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 
patients have been diagnosed. Developmental abnormalities include congenital 
cataracts and microcorneae, primary hypomyelination of the peripheral nervous 
system, impaired physical growth, delayed early motor and intellectual 
development, mild facial dysmorphism and hypogonadism. Para-infectious 
rhabdomyolysis is a serious complication reported in an increasing number of 
patients. During general anaesthesia, patients with CCFDN require careful 
monitoring as they have an elevated risk of complications. CCFDN is a 
genetically homogeneous condition in which all patients are homozygous for the 
same ancestral mutation in the CTDP1 gene. Diagnosis is clinical and is 
supported by electrophysiological and brain imaging studies. The major 
differential diagnosis is Marinesco-Sjögren syndrome. The definitive diagnosis 
is molecular, based on homozygosity for the CTDP1 mutation. CTDP1 maps to 18qter 
and encodes a protein phosphatase whose only known substrate is the 
phosphorylated serine residues of the carboxy-terminal domain of the largest 
subunit of RNA polymerase II, indicating that CCFDN affects basic cellular 
processes of gene expression and developmental regulation. Families benefit from 
genetic counselling and predictive testing. Management includes surgical 
treatment of the cataracts, and rehabilitation and corrective orthopaedic 
surgery for the peripheral neuropathy. Thus, the most disabling manifestations, 
though not curable, are manageable, and allow an acceptable quality of life and 
everyday living. Current data indicate that patients survive well into 
adulthood.