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COACH is an acronym referring to an association of anomalies that includes cerebellar vermis hypo- or aplasia, oligophrenia, early onset congenital ataxia, optic nerve or chorio-retinal coloboma and hepatic fibrosis that starts in the first few months of life. It has been described in less than ten patients so far. A peculiar face (hypertelorism, mid-face hypoplasia, shallow orbits, alobular pinnae) and moderately delayed psychomotor development were also reported. Progressive renal insufficiency with fibrocystic changes may appear during the first year of life. The occurrence of multiple affected patients in single sibships, and the fact that parents were described as healthy in all reported cases, indicate that this condition is inherited as an autosomal recessive trait, but no specific molecular defect as been identified. This syndrome appears to be a separate entity from Joubert syndrome as none of the reported patients displayed hyperpnea or abnormal movements of the eyes and tongue. Life expectancy depends mainly on the severity of the hepatic and renal manifestations. |