CEREBRO OCULO FACIO SKELETAL (COFS) SYNDROME

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

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).

Diagnostic testing: COFS is usually diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little.

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.

Physical findings: Physical examination shows:

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  Flexion contractures (fixed bending of the elbows and knees);

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  Hunched back (kyphosis);

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  Bending of the fingers (camptodactyly);

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  Hip deformities;

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  Craniofacial and skeletal abnormalities;

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  Severely reduced muscle tone;

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  Impaired reflexes and porous bones (osteoporosis).

Other findings may include:

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  Large, low-set ears;

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  Small eyes;

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  Microcephaly (abnormal smallness of the head);

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  Micrognathia (abnormal smallness of the jaws);

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  Clenched fists;

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  Wide-set nipples;

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  Vision impairments;

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  Involuntary eye movements; and

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  Intellectual disability.

ICD-9: 759.89

ICD-10: Q87.0

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

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

Suggested MER for Evaluation:

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  Clinical history and examination and examination that describes the diagnostic features of the impairment; and

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  Genetic testing.

Suggested Listings for Evaluation:

REMARKS

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