Search
Joubert syndrome
Pathology:
- cirrhosis is a variable feature
- also see radiology
Genetics:
- autosomal recessive disorder
- several types, genetically heterogeneous
- defects in CEP41 are the cause of Joubert syndrome type 15 [1]
Clinical manifestations:
- cerebellar ataxia
- oculomotor apraxia
- hypotonia
- neonatal breathing abnormalities
- psychomotor delay
- variable features include:
- retinal dystrophy
- renal disease
- polydactyly
Radiology:
- magnetic resonance imaging (MRI)
- cerebellar vermian hypoplasia/aplasia
- thickened & reoriented superior cerebellar peduncles
- abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign)
Specific
Joubert syndrome 1 (JBTS1)
Joubert syndrome 14 (JBTS14)
Joubert syndrome 2; cerebello-oculo-renal syndrome; Joubert syndrome type B (JBTS2)
Joubert syndrome 3 (JBTS3)
Joubert syndrome 4 (JBTS4)
Joubert syndrome 5 (JBTS5)
General
genetic disease of the central nervous system
syndrome
Database Correlations
OMIM 213300
References
- OMIM :accession 614464
- National Institute of Neurological Disorders and Stroke (NINDS)
NINDS Joubert Syndrome Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Joubert-Syndrome-Information-Page