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COFS syndrome

Disease definition

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.


Classification level: Subtype of disorder
  • Synonym(s):
    • Cerebrooculofacioskeletal syndrome
    • Pena-Shokeir syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 214150  278780  610756  610758  616570
  • UMLS: C0220722  C1859312  C2931277
  • MeSH: -
  • GARD: 6027
  • MedDRA: -

Detailed information

Article for general public

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.