U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Joubert syndrome with renal defect

Joubert syndrome with renal defect

Synonyms
Joubert syndrome 4; Joubert syndrome with renal anomalies; NPHP1-Related Joubert Syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Joubert Syndrome
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

97 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (97 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JBTS4, NPH1, SLSN1, NPHP1
    Summary: nephrocystin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.