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Joubert syndrome
Other Names for this Disease
- Cerebellar vermis agenesis
- Cerebellooculorenal syndrome 1
- Cerebelloparenchymal disorder 4
- CORS1
- CPD4
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Overview
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). Most infants with Joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements. Individuals with Joubert syndrome can have delayed development and mild to severe intellectual disabilities. Distinctive facial features are also characteristic of Joubert syndrome. Mutations in one of 10 known genes have been found in about half of all cases with Joubert syndrome and related disorders. In the remaining cases, the genetic cause is unknown. This condition typically has an autosomal recessive pattern of inheritance. Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern.[1][2]
References
- Joubert syndrome. Genetic Home Reference. http://ghr.nlm.nih.gov/condition/joubert-syndrome. Accessed Feb 2011.
- Parisi, MD, PHD, Glass, MD. Joubert syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1325/. Accessed Feb 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Joubert syndrome. Click on the link to go to GHR and review the information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- !LINK! is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Joubert syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Joubert syndrome. Click on the link to go to OMIM and review these resources.
- The University of Washington's hindbrain malformation research program has more information on this condition. Click on the link to read information on this topic.