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
Features include always present findings: Abnormal cerebellum morphology, Progressive muscle deterioration (muscular dystrophy), and Retinal dysplasia; and very common findings: Orofacial cleft, Hydrocephalus, Enlarged brain ventricles (ventriculomegaly), and Type II lissencephaly and others. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract |
Biomarker and diagnostic research for muscular hypertrophy-hepatomegaly-polyhydramnios syndrome has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 5 very common features, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for muscular hypertrophy-hepatomegaly-polyhydramnios syndrome.
206 publications have been identified in PubMed for muscular hypertrophy-hepatomegaly-polyhydramnios syndrome. Research spans Review / Meta-Analysis (43%), Basic Science / Preclinical (18%), and Case Report / Case Series (14%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 88 | 43% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:54 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Head and neck | 2 | Orofacial cleft, Macrocephaly at birth |
Brain and nerves | 2 | Hydrocephalus, Enlarged brain ventricles (ventriculomegaly) |
Muscles | 1 | Progressive muscle deterioration (muscular dystrophy) |
Laboratory research |
37 |
18% |
Patient case studies | 29 | 14% |
Disease patterns and progression | 24 | 12% |
Clinical study results | 12 | 6% |
Testing and diagnosis research | 9 | 4% |
New treatment approaches | 5 | 2% |
Other research | 2 | 1% |
Wenninger S (2026). [PMID: 41980375](https://pubmed.ncbi.nlm.nih.gov/41980375/). *Neuromuscul Disord*. [Review / Meta-Analysis]
Omachi K (2026). [PMID: 41712384](https://pubmed.ncbi.nlm.nih.gov/41712384/). *Cell Rep*. [Case Report / Case Series]
Jose A (2026). [PMID: 41999517](https://pubmed.ncbi.nlm.nih.gov/41999517/). *Neurogenetics*. [Case Report / Case Series]
Tripathi M (2026). [PMID: 36256770](https://pubmed.ncbi.nlm.nih.gov/36256770/). *Unknown Journal*. [Epidemiology / Natural History]
Archambeaud A (2026). [PMID: 41056436](https://pubmed.ncbi.nlm.nih.gov/41056436/). *Rheumatology (Oxford)*. [Review / Meta-Analysis]
Bjelica B (2026). [PMID: 41400829](https://pubmed.ncbi.nlm.nih.gov/41400829/). *J Neuromuscul Dis*. [Case Report / Case Series]
Khadilkar SV (2026). [PMID: 42248683](https://pubmed.ncbi.nlm.nih.gov/42248683/). *Pract Neurol*. [Case Report / Case Series]
Ghazaleh S (2026). [PMID: 30969593](https://pubmed.ncbi.nlm.nih.gov/30969593/). *Unknown Journal*. [Clinical Trial Publication]
Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Basic Science / Preclinical]
Bulut N (2026). [PMID: 42090667](https://pubmed.ncbi.nlm.nih.gov/42090667/). *Rev Assoc Med Bras (1992)*. [Basic Science / Preclinical]