Joubert syndrome


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Jou·bert syn·drome

(zhū'bār), [MIM*213300]
agenesis of the cerebellar vermis, characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.

Joubert syndrome

Neonatology A condition characterized by episodic hyperpnea, abnormal eye movements, ataxia, and mental retardation linked to agenesis of the cerebellar vermis

Jou·bert syn·drome

(zhū-bār' sin'drōm)
Agenesis of the cerebellar vermis, characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.

Joubert,

Marie, 20th century Canadian neurologist.
Joubert syndrome - agenesis of the cerebellar vermis, characterized by tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.

Jou·bert syn·drome

(zhū-bār' sin'drōm) [MIM*213300]
Agenesis of cerebellar vermis, characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, and ataxia.
References in periodicals archive ?
Not all patients with Joubert syndrome carry the CEP290 gene, but those who do will develop kidney disease during their lifetime and may require a transplant or dialysis.
"We expect that we will start to test treatment of patients with exon-skipping within the next three years." Teenager Asher Ahmed has Joubert syndrome and is likely to need a kidney transplant in the future.
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
Isler, "Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis," Neuropadiatrie, vol.
Joubert syndrome and related disorders (JSRD) are classified in six phenotypic subgroups: Pure JS; JS with ocular defect; JS with renal defect; JS with occulorenal defects; JS with hepatic defect; JS with orofaciodigital defects.
When children are facing rare genetic disorders like Joubert syndrome, ensuring that they do not feel isolated will help them to find normalcy in their daily lives.
Key words: Joubert Syndrome, INPP5E, nsSNP, insilico analysis, disease prone exons, molecular geneticist.
Joubert syndrome is a rare autosomal recessive disorder affecting the brainstem and cerebellum.
Nate Trainor has Joubert Syndrome, a disorder that causes a brain abnormality of the cerebellar vermis, which controls balance and coordination, according to the Joubert Syndrome & Related Disorder Foundation.
Joubert syndrome is a rare disease characterised by clinical and radiological findings.
With Joubert Syndrome, a rare genetic disorder, the 23-year-old from Hemlington gets a lot from things he can touch, taste and smell.
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by cerebellar vermian hypoplasia.