cerebro-oculo-facio-skeletal syndrome (COFS); Pena Shokeir 2 syndrome; Cockayne syndrome type 2

Pathology

• involves the brain & spinal cord
• craniofacial & skeletal abnormalities
  • brain atrophy, hypoplasia of the corpus callosum, hypotonia
• involves the eye
  • cataracts, microcornea, optic atrophy
• severely reduced muscle tone (hypotonia)
• loss of reflexes
• abnormalities of the skull, eyes, limbs, heart & kidney also occur
• 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

• large, low-set ears
• small eyes
• microcephaly
• micrognathia
• clenched fists
• wide-set nipples
• visual impairment, cataracts
• involuntary eye movements
• mental retardation (moderate-severe)
• respiratory infections are frequent
• 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

• treatment is supportive & symptomatic
• tube feeding often indicated
• genetic counseling

Prognosis:

• fatal disease
• most children do not live beyond five years.

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Patient information

cerebro-oculo-facio-skeletal syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/610758
• OMIM: https://mirror.omim.org/entry/214150