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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-06-2010
Symbol COFS4
Location 19q13.32
Name cerebro-oculo-facio-skeletal syndrome 4
Corresponding gene ERCC1
Main clinical features
  • microcephaly with premature closure of fontanels, bilateral microphthalmia, blepharophimosis, high nasal bridge, short philtrum, micrognathia, low-set and posterior-rotated ears, arthrogryposis with rocker-bottom feet, flexion contractures of the hands, and bilateral congenital hip dislocation
  • on nuclear magnetic resonance, a simplified gyral pattern and cerebellar hypoplasia, mild hypoplasia of the kidneys, with normal structure and function
  • Genetic determination autosomal recessive
    Related entries including cases mimicking Cockayne syndrome (PMID: 23623389)
    Function/system disorder mental retardation
    Type disease