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cerebro-oculo-facio-skeletal syndrome 4 (COFS4)

COFS4 is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure. 
Clinical features: microcephaly; premature closure of fontanels; microphthalmia; blepharophimosis; high nasal bridge; short philtrum; micrognathia; low-set rotated ears; arthrogryposis with rocker-bottom feet; flexion contractures of the hands; hip dislocation
Inheritance: autosomal recessive.

OTHER NAME(S): COFS4 syndrome

ABREVIATION(S):
COFS4

TYPE: microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS)

Related patway(s): Fanconi anemia (FA) pathway, nucleotide excision repair (NER)

DNAtraffic protein(s) related to disease: ERCC1

OMIM: 610758

Last modification date: Aug. 25, 2011