Cerebrooculofacioskeletal Syndrome

Background and History: 

This syndrome is part of a spectrum of disorders with a complex of symptoms sometimes called Cockayne syndrome.  These conditions are rare and complete descriptions are still lacking.  It may not be a distinct and unique disorder.

Clinical Correlations: 

Infants usually have a normal birth weight but are born with small heads (microcephaly).  The base of the nose is broad and the upper lip protrudes.  Delayed mental and motor development becomes apparent soon after birth and there seems to be some regression of these symptoms.  Muscle contractures often develop and some infants are ‘floppy’.  Many infants have breathing difficulties.  Some children die in the first decade of life and autopsy shows severe degeneration of the brain with areas of calcium deposits.  The eyes are small and often have cataracts.


This is an autosomal recessive disorder caused by a mutation in both genes inherited from normal parents, each of which contributes one of the mutations.  Only a few families have been reported and the parents have been related in several instances.

Diagnosis and Prognosis: 

This complex syndrome requires a collaborative approach by ophthalmologists, pediatricians and neurologists in order to make the diagnosis.  The prognosis is poor because of the severe brain degeneration and respiratory difficulties.

Additional Information