Cockayne syndrome
(Redirected from Pena-Shokeir syndrome type 2)
| Cockayne syndrome | |
|---|---|
| Other names | Neill-Dingwall syndrome |
Cockayne syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.
Other names[edit | edit source]
- Neill-Dingwall syndrome
- Cerebro-oculo-facio-skeletal syndrome (COFS)
- Pena Shokeir II Syndrome
Pathophysiology[edit | edit source]
It is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of 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-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. 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 of the abnormalities result, in part, from lack of movement.
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 pigmentosumgenes "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).
Treatment[edit | edit source]
Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.
Prognosis[edit | edit source]
COFS is a fatal disease. Most children do not live beyond five years.
- This article incorporates some public domain text from The U.S. National Library of Medicine
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