Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0100506
An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease. [ http://www.ncbi.nlm.nih.gov/pubmed/18628313 http://www.ncbi.nlm.nih.gov/pubmed/10196384 http://www.ncbi.nlm.nih.gov/pubmed/9443879 https://clinicalgenome.org/affiliation/40060/ http://www.ncbi.nlm.nih.gov/pubmed/19894250 ]
Synonyms: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
Term information
rare, inferred_rare, clingen