COMPASSIONATE ALLOWANCE INFORMATION

CEREBRO OCULO FACIO SKELETAL (COFS) SYNDROME

DESCRIPTION

Cerebro oculo facio skeletal (COFS) syndrome is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord that begins before birth. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Other findings 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 intellectual disability, which can be moderate or severe. Respiratory infections are frequent. A small number of individuals with COFS have a mutation in the “ERCC6” gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes “XPG” 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.

NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).

ALTERNATE NAMES

Cockayne Syndrome-Classical Type I, Cockayne Syndrome-Congenital Type II, Pena Shokeir Syndrome Type II

DIAGNOSTIC TESTING AND CODING

COFS is usually diagnosed at birth. However, ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little. Some of the abnormalities result, in part, from a lack of movement.

TREATMENT

Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.

PROGRESSION

COFS is a fatal disease. Death usually occurs by 5 years of age.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Results of genetic testing showing the ERCC6, XPG, or XPD gene mutations, are associated with the syndrome but are not considered alone as diagnostic or confirmatory of COFS syndrome.
The condition is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impaired reflexes.
Other findings 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 intellectual disability.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 B

Clinical evidence consistent with COFS syndrome. The results of genetic testing may contribute in confirmation of the diagnosis.

Medical Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

Last Updated: 9/10/08

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