TN 1 (10-08)
COMPASSIONATE ALLOWANCE INFORMATION
CEREBRO OCULO FACIO SKELETAL (COFS) SYNDROME
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
NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal
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 is supportive and symptomatic. Individuals with the disorder often require
tube feeding. Because COFS is genetic, genetic counseling is available.
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
Suggested Listings for Evaluation:
Clinical evidence consistent with COFS syndrome. The results of genetic testing may
contribute in confirmation of the diagnosis.
* 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
Office of Disability Programs