Cerebro-oculo-facio-skeletal syndrome is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, microcephaly with cerebral and cerebellar degeneration and calcification in basal ganglia and white matter, arthrogryposis with progressive joint contractures and wasting, and death in infancy or early childhood.
The disorder results from a mutation in one of a number of genes, to date the Cockayne syndrome group B (ERCC6/CSB) gene or xeroderma pigmentosum (DNA repair) genes (ERCC2/XPD, ERCC5/XPG, ERCC1/XPF), reflecting phenotypic and clinical similarities between these conditions.
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.
Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counselling is available. COFS is a fatal disease. Most children do not live beyond five years.
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