Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recessive genetic trait. COFS is now considered to be part of the spectrum of disorders within Cockayne syndrome.
Individuals with cerebro-oculo-facio-skeletal syndrome are usually identified at birth or shortly thereafter, on the basis of their physical appearance and severe psychomotor retardation. However, some may present prenatally.
The appearance of those affected by the disorder is relatively characteristic and includes the major diagnostic criteria of (1) microcephaly; (2) ocular anomalies including cataracts, microphthalmia, optic atrophy, and blepharophimosis (3) dysmorphic facies with a high and broad nasal bridge, large ears, overhanging upper lip, and micrognathia; and (4) musculo-skeletal abnormalities including flexion contractures of the limbs (arthrogryposis), scoliosis, hip dysplasia or dislocation, narrow pelvis, short stature, osteoporosis, dysplastic acetabula, and rocker-bottom feet with proximal displacement of the second metatarsals and longitudinal grooves in the soles along the second metatarsal.
Infants may also have a short neck, hirsutism, widely spaced nipples, single palmar creases, axial hypotonia, peripheral hypertonia, and renal anomalies. Affected children are usually small at birth due to intrauterine growth retardation; growth progresses poorly in the postnatal period as well.
Affected infants may develop seizures including infantile spasms. There is invariably severe motor delay. Few affected infants are capable of more than rolling over, and perhaps sitting, smiling, and learning a few words. Nevertheless, variable progression has led some authors to suggest that there are 2 subtypes of cerebro-oculo-facio-skeletal syndrome. Vision and hearing are often impaired. The children suffer from feeding difficulties and failure to thrive. In the terminal stages, the children may lose weight despite adequate caloric intake by tube feeding. Repeated respiratory infections eventually lead to death in infancy or early childhood, usually by 6 years, although one well-documented patient died at 11 years of age. At that time, it had become apparent that he resembled children with Cockayne syndrome in appearance and in regard to hypersensitivity to sunlight.
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