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cerebro-oculo-facio-skeletal syndrome (COFS); Pena Shokeir 2 syndrome; Cockayne syndrome type 2
Pathology:
1) involves the brain & spinal cord
2) craniofacial & skeletal abnormalities
- brain atrophy, hypoplasia of the corpus callosum, hypotonia
3) involves the eye
- cataracts, microcornea, optic atrophy
3) severely reduced muscle tone (hypotonia)
4) loss of reflexes
5) abnormalities of the skull, eyes, limbs, heart & kidney also occur
6) some of abnormalities result from lack of movement
Genetics:
- autosomal recessive
- associated with defects in ERCC2
- type 1 associated with defects in ERCC6
- type 2 associated with defects in ERCC2
- type 4 associated with defects in ERCC1
Clinical manifestations:
1) large, low-set ears
2) small eyes
3) microcephaly
4) micrognathia
5) clenched fists
6) wide-set nipples
7) visual impairment, cataracts
8) involuntary eye movements
9) mental retardation (moderate-severe)
10) respiratory infections are frequent
11) diagnosed at birth
Radiology:
- ultrasound can detect fetuses with COFS at an early stage of pregnancy (fetus moves very little)
Differential diagnosis:
- Cohen's syndrome (cerebral obesity ocular skeletal syndrome)
Management:
1) treatment is supportive & symptomatic
2) tube feeding often indicated
3) genetic counseling
Prognosis:
1) fatal disease
2) most children do not live beyond five years.
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM correlations
References
- NINDS Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebro-Oculo-Facio-Skeletal-Syndrome-COFS-Information-Page