The Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome is a rare disorder that is within the spectrum of Cockayne syndrome.


Chromosome: 10q11

Gene affected: ERCC6 (DNA excision repair protein), also affected in Cockayne syndrome B


Inheritance: autosomal recessive


Clinical features:

(1) extreme microcephaly

(2) facial dysmorphism

(3) congenital cataracts

(4) neurogenic arthrogryposis (joint contractures)

(5) postnatal growth failure

(6) severe psychomotor retardation

(7) axial hypotonia and peripheral hypertonia

(8) neonatal feeding difficulties

(9) severe brain atrophy with cerebral calcifications


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