Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
A prenatal onset growth disorder with multiorgan manifestations.
Features include very common findings: Short stature, Enlarged liver (hepatomegaly), J-shaped sella turcica, and Weak voice and others; and common findings: Recurrent lower respiratory tract infections, Nevus flammeus, Low muscle tone (hypotonia), and Pericardial constriction and others. 41 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Mild intellectual disability, Enlarged brain ventricles (ventriculomegaly), Dysarthria |
TRIM37 function has not been fully characterized.
Mulibrey nanism is caused by mutations in the TRIM37 gene on chromosome 17.
Genetic testing for TRIM37 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for mulibrey nanism has been reported in the published literature.
Phenotype severity distribution: 9 very common features, 7 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for mulibrey nanism.
12 publications have been identified in PubMed for mulibrey nanism. Research spans Basic Science / Preclinical (58%), Case Report / Case Series (25%), and Diagnostic / Biomarker (8%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 58% |
Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 3:35 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Heart and blood vessels | 4 | Pericardial constriction, Myocardial fibrosis, Enlarged heart (cardiomegaly) |
Eyes | 3 | Strabismus, Clouding of the cornea (corneal dystrophy), Pigmentary retinopathy |
Growth and development | 3 | Short stature, Intrauterine growth retardation, Growth delay |
Digestive system | 2 | Enlarged liver (hepatomegaly), Ascites |
Lungs and breathing | 1 | Recurrent lower respiratory tract infections |
Blood and immune system | 1 | Recurrent lower respiratory tract infections |
Muscles | 1 | Low muscle tone (hypotonia) |
Bones and joints | 1 | Thickened cortex of long bones |
Pregnancy and birth | 1 | Hydrops fetalis |
Kidneys and urinary system | 1 | Nephroblastoma |
Head and neck | 1 | Triangular face |
Age of onset: before birth.
3 |
25% |
Testing and diagnosis research | 1 | 8% |
Research summaries | 1 | 8% |
Piwar H (2026). [PMID: 42123650](https://pubmed.ncbi.nlm.nih.gov/42123650/). *Int J Mol Sci*. [Review / Meta-Analysis]
Hakonen AH (2026). [PMID: 41702694](https://pubmed.ncbi.nlm.nih.gov/41702694/). *Journal of medical genetics*. [Case Report / Case Series]
Zodanu GKE (2026). [PMID: 41907767](https://pubmed.ncbi.nlm.nih.gov/41907767/). *Cardiol Cardiovasc Med*. [Basic Science / Preclinical]
Bellaart A (2025). [PMID: 40415024](https://pubmed.ncbi.nlm.nih.gov/40415024/). *Nature structural & molecular biology*. [Basic Science / Preclinical]
Stachera WE (2025). [PMID: 41446055](https://pubmed.ncbi.nlm.nih.gov/41446055/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Yeow ZY (2025). [PMID: 40415023](https://pubmed.ncbi.nlm.nih.gov/40415023/). *Nature structural & molecular biology*. [Basic Science / Preclinical]
Karlberg S (2025). [PMID: 39558672](https://pubmed.ncbi.nlm.nih.gov/39558672/). *Clinical genetics*. [Basic Science / Preclinical]
Bellaart A (2024). [PMID: 39416052](https://pubmed.ncbi.nlm.nih.gov/39416052/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Yeow ZY (2024). [PMID: 39416078](https://pubmed.ncbi.nlm.nih.gov/39416078/). *bioRxiv : the preprint server for biology*. [Diagnostic / Biomarker]
Temizhan AY (2024). [PMID: 39225643](https://pubmed.ncbi.nlm.nih.gov/39225643/). *Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir*. [Case Report / Case Series]
AI-curated news mentioning mulibrey nanism
Updated Feb 17, 2026
Recent research identifies mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism linked to TRIM37 variants. This discovery may enhance understanding of the genetic underpinnings of the disease.