Cerebro-oculo-facio-skeletal syndrome refers to a pediatric, genetic as well as degenerative disorder that includes the brain as well as the spinal cord. It is characterised by craniofacial as well as skeletal abnormalities, impairment of reflexes and severely reduced muscle tone. The symptoms of this syndrome include:
• Large, low-set ears
• Small eyes
• Microcephaly, abnormal smallness of the head
• Micrognathia, abnormal smallness of the jaws
• Wide-set nipples
• Clenched fists
• Vision impairments
• Mental retardation
• Involuntary eye movements
These symptoms can either be moderate or severe in intensity. Respiratory infections in the patients are quite frequent. COFS usually gets diagnosed at birth. Ultrasound technology can easily detect those fetuses that have COSF during the beginning of pregnancy. Because the fetus moves slowly, some of the abnormalities can be confirmed, in part, when there is a lack of movement.
Small number of people with COFS tends to have a mutation in their ERCC6 gene. These patients are diagnosed to have Cockayne Syndrome Type II. Other people who have the COFS may also have defects in the xeroderma pigmentosum genes XPD or XPG. Still there are other patients who do not have identifiable genetic defects and are affected by a defect or mutation in a not-yet-known gene.
The treatment of cerebro-oculo-facio-skeletal syndrome depends on the kind of symptoms the person has and how severe it is. Individuals suffering from the disorder tend to often be in need of tube feeding. Since COFS is genetic, one may seek genetic counseling as well.
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