Disease Information for Joubert syndrome/absent cerebellar vermis (unco)

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Clinical Manifestations
Signs & Symptoms
Ataxia
Ataxia, Cerebellar type
Ataxia/Motor tremor type
Cerebellar movement disorder/signs
Limb Ataxia
Mental Deficiency Child
Nystagmus
Poor coordination legs/feet
Staggering Gait
Titubation Cerebellar Stagger/Nodding tremor
Unsteadiness movement/Gait in a child
Hyperpnea
Psychomotor retardation
True Vertigo Sign Confirmed
Clinical Presentation & Variations
Presentation/Infant Jerky Eye Movements Ataxia MR
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Diagnostic Test Results
CT Scan
CT Scan/Head Hypoplasia Vermis/cerebellar areas
MRI/Head Cerebellar splayed hemispheres/tiny vermis remnant
MRI/Head Scan Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Cerebellar ataxia
Cerebellar vermis lesion
Coloboma
Congenital cystic kidneys
Congenital Nystagmus
Joubert cerebellar vermis agenesis
Limb deformities/anomalies
Mental retardation
Polydactyly/Supernumery digits
Respiratory neonatal distress syndrome
Ataxia Disorder
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Cerebellar disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 2q13
Pathophysiology/Gene locus 9q34.3
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene locus Chromosome 6
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Cerebellar vermis agenesis
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Familial variant (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Congenital CNS disorder (ex)
Synonyms
Synonym
Joubert syndrome absent cerebellar vermis, Synonym/Cerebellar vermis aplasia/agenesis, Synonym/Cerebelloparenchyma Disorder IV Familial, Synonym/Joubert-Bolthauser syndrome
Definition

Joubert Syndrome;Cerebellar Vermis Agenesis, Hyperpnoea, Episodic-Eye Moves-Ataxia-Retardation;Cerebellar Vermis Aplasia; Cerebella parenchyma Disorder IV; Ccerebelloparenchymal Disorder IV Familial; Choriretinal Coloboma-Joubert Syndrome;

Hyperpnea, Episodic-Abnormal Eye Movement; Joubert-Bolthauser Syndrome; Kidneys, Cystic-Retinal Aplasia Joubert Syndrome; Polydactyly-Joubert Syndrome; Retinal Aplastic-Cystic Kidneys-Joubert Syndrome; Vermis Aplasia; Vermis Cerebellar Agenesis; Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination; Generally motor activity is slowed (psychomotor retardation) and there are abnormal eye movements; Respiratory irregularities, including rapid panting, during infancy; (NORD 2005)-------------------------------------------------

What is Joubert Syndrome?

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), jerky eye movements, mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes, cleft lip or palate, and tongue abnormalities. Seizures may also occur. Most cases of Joubert syndrome are sporadic (in other words, no other family member has the disorder), but in some families, Joubert syndrome appears to be inherited via a recessive gene.

Is there any treatment?

Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored

What is the prognosis?

The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is entirely absent or partially developed. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

[ninds.nih.gov.org 2005]

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External Links Related to Joubert syndrome/absent cerebellar vermis (unco)
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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