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Joubert syndrome
What are the symptoms?
Hypotonia is particularly evident in the neonatal period and during infancy. Children may be moderately or severely affected and may lack head control, have difficulties rolling over, sitting, standing and walking. Unsteadiness (ataxia) and balance problems may also be present. Joubert syndrome also affects breathing and abnormal breathing commonly occurs during the neonatal period. This may, however, improve with age. Sadly, some infants die within the first three years from breathing problems.
Individuals with Joubert syndrome have abnormal eye movements including a squint (see entry, Vision Disorders in Childhood) with or without retinal degeneration (see entry, Vision Disorders in Childhood), and with or without congenital blindness (see entry, Visual Impairment). Young infants with Joubert syndrome often have a characteristic appearance and have a large head, prominent forehead, high rounded eyebrows, broad nasal ridge, mild epicanthus, upturned nose with evident nostrils, open mouth and protruding tongue. This appearance becomes less pronounced as the child grows.
Cognitive and physical development is delayed in Joubert syndrome. Moderate to severe learning difficulties are common. Language may be delayed making it difficult for children make themselves understood. Some children with Joubert syndrome are hyperactive, aggressive and difficult to manage whilst others are pleasant, friendly, easy to guide and socially adaptable.
Background
| What are the causes? 
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