Joubert syndrome

This is a rare condition and only 65 cases have been reported in the literature so far. The condition is associated with cerebellar dysgenesis and the mode of inheritance is autosomal recessive. No cause has been identified for this condition. Commonly described physical features include hypotonia, rhythmic tongue protrusion, polydactyly, facial spasms, syndactyly, cystic kidney, ataxia, and abnormal eye movements. Affected children have severe mental retardation and show a characteristic episodic hyperpnoea. (62> This abnormal respiration is said to mimic panting of a dog. Autistic features including stereotyped hand movements have been described in some children with Joubert syndrome.(69 The overall prognosis for this condition is poor and no treatment is available at present. Self-injurious behaviour in the form of self-mutilation, beating of the head, and biting of body parts in children with Joubert syndrome has been reported. (2.9

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