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Joubert syndrome and related disorders (JSRD) - Clinical Profile, Genes & Research | Kisho | Kisho
Rare Disease
Joubert syndrome and related disorders
MONDO:0015369
Also known as:JSRD
Overview
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.
OnsetJUVENILE, CHILDHOOD
Patient Orgs1 organizations · Joubert Syndrome and Related Disorders Foundation
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for Joubert syndrome and related disorders.
11 publications have been identified in PubMed for Joubert syndrome and related disorders. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (18%).
Research Type
Count
% of Total
Patient case studies
5
45%
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:10 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
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FAQ
Frequently Asked Questions
Common questions about Joubert syndrome and related disorders
Joubert syndrome and related disorders (JSRD) are a group of conditions that involve developmental delay and multiple congenital anomalies. A key finding in these conditions is the 'molar tooth sign' (MTS) seen on brain imaging, which reflects a complex malformation in the midbrain and hindbrain. The MTS is defined by a combination of cerebellar vermis hypodysplasia, thickened and misoriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa.
This group of disorders is recognized by its distinctive brain imaging features. It is one example of conditions where development in the brain does not follow typical patterns, leading to various challenges. Detailed information and further research in this area continue to enhance understanding of how these brain changes relate to the signs and symptoms experienced by people with the condition.
Information about symptoms is currently limited for this condition.
Information about causes, genetics, and risk factors is currently limited for this condition.
Concepcion D (2025). [PMID: 40501617](https://pubmed.ncbi.nlm.nih.gov/40501617/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Shi Q (2025). [PMID: 40432436](https://pubmed.ncbi.nlm.nih.gov/40432436/). *Physiological research*. [Review / Meta-Analysis]
Kumasaka I (2025). [PMID: 41130729](https://pubmed.ncbi.nlm.nih.gov/41130729/). *BMJ case reports*. [Case Report / Case Series]
Heyba MIM (2025). [PMID: 41094582](https://pubmed.ncbi.nlm.nih.gov/41094582/). *Journal of medical case reports*. [Case Report / Case Series]
Concepcion D (2025). [PMID: 40825037](https://pubmed.ncbi.nlm.nih.gov/40825037/). *Genetics*. [Case Report / Case Series]
Uuganbayar U (2025). [PMID: 40570958](https://pubmed.ncbi.nlm.nih.gov/40570958/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
EU approval makes Joenja the first and only approved APDS treatment across the EU, Norway, Iceland and Liechtenstein, with Germany launch due in Q3 2026. Leniolisib is also being evaluated in two Phase II clinical trials in primary immunodeficiencies (PIDs) with immune dysregulation. The safety and efficacy of leniolisib has not been established for PIDs with immune dysregulation beyond APDS. About Pharming Group N.V. Pharming Group N.V. (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating, and life-threatening diseases. The EU approval advances Pharming’s global rare disease expansion strategy for Joenja. According to Pharming, Joenja already has approvals in the United States, United Kingdom, Japan, Australia and Israel, and the new European authorization further broadens its international treatment footprint for APDS. ... May 7, 2026 Pharming Group announces presentations at CIS 2026 Annual Meeting, including leniolisib pediatric data in APDS and clinical experience in CVID and related disorders Pharming (PHARM) received European Commission marketing authorization for Joenja (leniolisib), the first and only approved treatment in the EU for activated PI3K delta syndrome (APDS) in patients aged 12 and older. First EU launch is expected in Germany in Q3 2026, with further roll-out after national reimbursement decisions. The approval, based on a Phase II/III trial and long-term extension data, is valid in all 27 EU states plus Norway, Iceland and Liechtenstein, and supports Pharming’s rare disease expansion alongside existing approvals in the US, UK, Japan, Australia and Israel. Investors watch these conditions because they create steady, long‑term demand for diagnostics and specialized treatments (including replacement therapies and gene therapies); successful clinical trials or approvals can rapidly change a company’s revenue outlook and valuation, similar to discovering a cure for a chronic condition that many patients need.
