loading...| 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 |