A to Z of syndromes

A-Z of syndromes: Joubert syndrome

How to recognise and support children who have this rare neurological condition

Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.

It usually occurs because of an autosomal recessive trait resulting in a genetic abnormality affecting some genes. This means that, although neither parent shows signs of being affected, they carry the abnormal genetic trait and there is a 25% risk with each pregnancy of having an infant with the syndrome. They can also have children who do not have the syndrome, but carry the affected gene. It occurs in all races and both genders but is more common in isolated communities, where the gene pool may be less diverse.

The genetic abnormality is responsible for the

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