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angioosteohypertrophic syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

angioosteohypertrophic syndrome

MONDO:0007864

Also known as:Klippel Trenaunay syndromeKlippel-Trenaunay-Weber syndromeKlippel-Trenaunay-Weber syndrome, Isolated cases

Find Clinical TrialsTrials

Overview

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.

GeneticsSporadic (not inherited)

Clinical Trials5 registered · 2 recruiting

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: Abnormality of blood and blood-forming tissues, Seizure, Hand polydactyly, and Macrodactyly and 10 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Intellectual disability
Arms and legs

Diagnosis

Biomarker and diagnostic research for angioosteohypertrophic syndrome has been reported in the published literature.

Prognosis

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.

5 clinical trials registered, 2 recruiting. Interventions under study include drug therapy, other interventions, and medical devices. Pipeline includes 1 PHASE3, 1 PHASE2, 1 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06789913](https://clinicaltrials.gov/study/NCT06789913)

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:149000

Orphanet

European rare disease database

Orphanet:2346 Orphanet:90308

GARD

Genetic and Rare Diseases Info Center

GARD:3122

Questions for Your Care Team

→Are any of the 5 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Research Type	Count	% of Total
Patient case studies	66	77%
Research summaries	6	7%
Laboratory research	4	5%
Clinical study results	3	3%
New treatment approaches	3	3%
Other research	2	2%
Testing and diagnosis research	1	1%
Disease patterns and progression	1	1%

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angioosteohypertrophic syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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angioosteohypertrophic syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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