cerebro-oculo-facio-skeletal syndrome type 2

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cerebro-oculo-facio-skeletal syndrome type 2

An autosomal recessive disorder (OMIM:610756) of prenatal onset which affects the brain, eyes 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. Facial dysmorphism is a constant feature, often accompanied by defects of the skull, eyes, limbs, heart and kidneys.
 
Molecular pathology
Defects of ERCC2, which encodes a protein involved in nucleotide excision repair (NER) of DNA and in RNA transcription, cause cerebro-oculo-facio-skeletal syndrome type 2.