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cerebro-oculo-facio-skeletal syndrome 3 (COFS3)

Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and mental retardation, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement.

A small number of individuals with COFS have a mutation in the ERCC6 (CSB) gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes ERCC5 (XPG) - COFS3, or XPD. Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. 

OTHER NAME(S): COFS3 syndrome

ABREVIATION(S):
COFS3

TYPE: microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS)

Related patway(s): nucleotide excision repair (NER)

DNAtraffic protein(s) related to disease: ERCC5 (XPG)

OMIM: xxx8

Last modification date: Oct. 6, 2011