Joubert syndrome 23
Summary
Excerpted from the GeneReview:Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Melissa Parisi
- Ian Glass
- view full author information
Available tests
30 tests are in the database for this condition.
Clinical tests (30 available)
Clinical features
Help- Abnormality of limbs
- Polydactyly
Polydactyly
- MedGen UID: 57774
- Concept ID: C0152427
- Finding: Congenital Abnormality
Abnormality of limbs
- Polydactyly
- Abnormality of the eye
- Abnormality of eye movement
Abnormality of eye movement
- MedGen UID: 99227
- Concept ID: C0497202
- Finding: Finding
Abnormality of the eye
- Congenital ocular coloboma
Congenital ocular coloboma
- MedGen UID: 1046
- Concept ID: C0009363
- Finding: Congenital Abnormality
Abnormality of the eye
- Abnormality of eye movement
- Abnormality of the nervous system
- Cerebellar dysplasia
Cerebellar dysplasia
- MedGen UID: 479952
- Concept ID: C3278322
- Finding: Finding
Abnormality of the nervous system
- Dysplastic corpus callosum
Dysplastic corpus callosum
- MedGen UID: 98128
- Concept ID: C0431369
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Cerebellar dysplasia
- Abnormality of the respiratory system
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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