Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

Joubert syndrome and related disorders
Synonyms

JSRD
Definitions

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
ID

http://www.orpha.net/ORDO/Orphanet_140874
alternative_term

JSRD
definition

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874
has_age_of_onset

Infancy

Neonatal
has_inheritance

Autosomal recessive

X-linked recessive
hasDbXref

UMLS:C5679612
label

Joubert syndrome and related disorders
notation

ORPHA:140874

Category
prefixIRI

ORDO:Orphanet_140874
prefLabel

Joubert syndrome and related disorders
present_in

Netherlands AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000

North America AND has_point_prevalence_average_value : 666.67 AND has_point_prevalence_range : >1 / 1000

United States AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000

Worldwide AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_range : Unknown
subClassOf

http://www.orpha.net/ORDO/Orphanet_98095

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_522506

http://www.orpha.net/ORDO/Orphanet_519341
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