Joubert syndrome is an uncommon autosomal recessive genetic disease which has an effect on the cerebellum, an area of the brain that controls balance and coordination.

Joubert syndrome is among the numerous genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was diagnosed in 1969 by pediatric neurologist Marie Joubert at Montreal, Quebec, Canada, while operating in the Montreal Neurological Institute and McGill University.

Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period. This article provides an overview of the condition and discusses the embryologic origins of this syndrome.

Signs and symptoms

The majority of the symptoms and signs of this Joubert syndrome seem very early in accordance with the majority of children demonstrating flaws in gross motor milestones. Though other symptoms and signs vary widely from individual to individual, they normally fall beneath the signature of cerebellum participation or in this case, lack thereof. Consequently, the most frequent attributes include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, strange eye and tongue movements, and hypotonia in early youth. Additional malformations like polydactyly (extra fingers and toes), cleft lip or palate, tongue abnormalities, and Infection can also happen. Developmental delays, such as cognitive, are always present to some extent.
Those suffering from the syndrome often exhibit special facial features like a wide forehead, arched eyebrows, ptosis (droopy eyelids), hypertelorism (widely spaced eyes), low-set ears along with a triangle formed mouth. Furthermore, this disorder can incorporate a wide assortment of different abnormalities along with other organ systems like retinal dystrophy, kidney diseases, liver diseases, skeletal deformities and endocrine (hormonal) problems.

Treatment

Remedy for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, speech and hearing therapy can help some patients. Babies with abnormal breathing patterns must be tracked.

The syndrome is related to advanced regeneration for kidneys, the liver and the eyes and so need routine monitoring.


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