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 ?
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
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.
There are classic imaging findings in Joubert syndrome, including the molar tooth sign and a bat-wing configuration of the fourth ventricle seen on axial MRI or CT.
Mother-of-two Leanne Buckley, of Whitley Bay, knows all too well the problems faced by those with Joubert Syndrome as her children Emma, six, and Benjamin, three, both have the illness and suffer a range of medical issues.
Keywords: Joubert Syndrome, clinical findings, radiological findings, MRI.
Joubert syndrome strikes people with severe movement disorders.
Meckel-Gruber syndrome and Joubert syndrome are part of a wider family of disorders known as ciliopathies--so-called because the cilia are not working as they should and do not respond to signals properly.
106) Characterized as cerebello-oculo-renal syndromes, different types of Senior-Locken syndrome (SLSN), Joubert syndrome (JBTS), Meckel-Gruber syndrome, and Bardet-Biedl syndrome have all been associated with and are allelic with various nephronophthisis loci (Table).
Individuals with a rare inherited disorder called Joubert syndrome are clumsy when they walk or use their hands, and they have irregular breathing and eye movements.
When my son, Bennett, was born with Joubert Syndrome, we were told he would probably never walk or talk," reflects Hillary Key.