Congenital cataracts facial dysmorphism

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  congenital cataracts, facial dysmorphism, and neuropathy (ccfdn) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus).   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. Clinical characteristics congenital cataracts, facial dysmorphism, and neuropathy (ccfdn) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils) mildly dysmorphic facial features apparent in late childhood and a hypodemyelinating, symmetric, distal peripheral neuropathy. Congenital cataracts, facial dysmorphism, and neuropathy is an autosomal recessive disorder that is prevalent among bulgarian gypsies. Additional features include delayed psychomotor development, skeletal anomalies, and hypogonadism.   congenital cataracts, facial dysmorphism, and neuropathy (ccfdn) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils) mildly dysmorphic facial features apparent in late childhood and a hypodemyelinating, symmetric, distal peripheral neuropathy.   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. Congenital cataracts facial dysmorphism neuropathy syndrome (omim 604168) is a recently delineated autosomal recessive condition which so far has been exclusively found in gypsies. The disease is mainly encountered in a subgroup of wallachian gypsies, called the rudari. Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a rare autosomal recessive disorder occurring exclusively in patients of roma ancestry. The diagnostic criteria for this syndrome were proposed by kalaydjieva 1 , and they include bilateral congenital cataracts, developmental delay, small stature, low weight, hypodemyelinating neuropathy, mild facial dysmorphism, and mild. 604168 - congenital cataracts, facial dysmorphism, and neuropathy ccfdn. Disease - congenital cataracts, facial dysmorphism, and neuropathy ))) map to. An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems.

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