Cerebro-oculo-facio-skeletal syndrome (COFS)
- Article
- 2021-03-07
Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric genetic degenerative disease involving the brain and spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and decreased 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 nipples, visual impairment, involuntary eye movements and impaired cognitive development, which is moderate or severe can be. Respiratory infections are common. 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 abnormalities are due in part to a lack of movement.
A small number of individuals with COFS have a mutation in the "ERCC6" gene and the diagnosis is better diagnosed with Cockayne syndrome type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes "XPG" or "XPD." Still others diagnosed with COFS have no identifiable genetic defect and are believed to be affected by mutations in a separate, as yet unknown gene.
NOTE: This condition is not the same as Cohen syndrome (cerebral obesity ocular skeleton syndrome).
Therapy
Treatment is supportive and symptomatic. Individuals with the condition often require tube feeding. Because COFS is genetic, genetic counseling is available.
Prognosis
COFS is a deadly disease. Most children do not live more than five years old.
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