(COFS syndrome for Cerebro-Oculo-Facio-Skeletal syndrome)

Very rare. Progressive neurological pathology. Autosomal recessive transmission of mutations of the:

• ERCC6 gene (10q11) for COFS 1 [MIM 214150]; it is an allelic form of type B Cockayne syndrome (see this term).
• ERCC2 gene for COFS 2 (19Q13.32) [MIM 610 756]
• ERCC5 gene for COFS 3 (13q33.1) [MIM 616 570]; the biallelic form of the mutation produces Xeroderma pimentosum or Cockayne syndrome (see these terms)
• ERCC1 gene for COFS  4 (19q13.32) [MIM 610 758]

These genes code for proteins involved in a DNA repair pathway. These syndromes belong to the family of the pathologies  of DNA repair.

Clinical observations:

-        congenital microcephaly: microgyria, microcalcifications, agenesis of the corpus callosum, agenesis or hypoplasia of the optical tracts

-        microphthalmia, cataract, blepharophimosis, nystagmus

-        facial dysmorphism: upper lip overlaping, moderate micrognathism, large ears

-        arthrogryposis, osteoporosis

-        severe sensorineural impairment: sensorineural hearing loss, retinitis pigmentosa and peripheral neuropathy

-        axial hypotonia with peripheral hypertonia, kyphoscoliosis

-        growth and development retardation, risk of epilepsy

-        photosensitivity, hirsutism

-        sometimes  heart or kidney defects, no pulmonary hypoplasia.

Death usually in the first years of life (respiratory infections).

Anesthetic implications:

respiratory failure, difficult intubation. Cardiac ultrasound, renal function. Difficult venous access and positioning due to the presence of contractures.  Avoid exposure to bright light. Epilepsy.

References : 

• Kutschera J, Friedrich G, Urlesberger B, Eber E, Mueller W. 
  Endoscopic laser posterior cordectomy in a newborn with bilateral vocal fold paralysis and cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome. 
  Eur J Pediatr 2004; 163: 120-1.
• Tsujikawa S, Okutani R, Tsujii K, Oda Y. 
  Anesthetic management of three pediatric cases with Pena-Shokeir syndrome. 
  J Anesth 2012 26:445-8

Updated: October 2018