Cerebrooculofacioskeletal Syndrome
Patient Information
Characteristics
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.
Genetics
Inheritance
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.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
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.
Web Resources
Printer Friendly Version: Ctrl/Cmd+P