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moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

MONDO:0010448

Also known as:Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadismmoyamoya disease 4, X-linked recessiveMYMY4

Overview

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

GeneticsX-linked

OnsetCHILDHOOD

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Short stature, Postnatal growth retardation, Decreased testicular size, and Elevated circulating luteinizing hormone level and others; and very common findings: Moyamoya phenomenon and Elevated circulating follicle stimulating hormone level. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Enlarged and weakened heart (dilated cardiomyopathy), Premature coronary artery atherosclerosis, Right aortic arch

Prognosis

Phenotype severity distribution: 5 always present features, 2 very common features, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

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 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome.

2 publications have been identified in PubMed for moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Venema M (2025). [PMID: 39552268](https://pubmed.ncbi.nlm.nih.gov/39552268/). *Clinical genetics*. [Case Report / Case Series]
Rodriguez-Gil JL (2024). [PMID: 39011850](https://pubmed.ncbi.nlm.nih.gov/39011850/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300845

Orphanet

European rare disease database

Orphanet:280679

GARD

Genetic and Rare Diseases Info Center

GARD:17301

Questions for Your Care Team

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Kisho

moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

A rare constellation: Behcet's disease, moyamoya syndrome, and recurrent ostial coronary occlusions.

moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

A rare constellation: Behcet's disease, moyamoya syndrome, and recurrent ostial coronary occlusions.