cerebro-oculo-facio-skeletal syndrome type 1
cerebro-oculo-facio-skeletal syndrome type 1An autosomal recessive degenerative disorder (OMIM:214150) of prenatal onset that affects the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure, as well as characeristic facial dysmorphia and defects of the skull, eyes, limbs, heart and kidneys.
Defects of ERCC6, which encodes a protein involved in transcription-coupled nucleotide excision repair, cause cerebro-oculo-facio-skeletal syndrome type 1.
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