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subaortic stenosis-short stature syndrome - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

subaortic stenosis-short stature syndrome

MONDO:0010082

Also known as:Onat syndrome

Overview

Treatments1 FDA approved

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 very common findings: Anteverted nares, Abnormality of the voice, Subvalvular aortic stenosis, and Short stature and others; and common findings: Inguinal hernia, Obesity, Difficulty breathing (respiratory insufficiency), and Sideways curvature of the spine (scoliosis) and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Arrhythmia

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for subaortic stenosis-short stature syndrome, including somatropin (Nutropin, approved 1993).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Phenotype severity distribution: 7 very common features, 5 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 subaortic stenosis-short stature syndrome.

11 publications have been identified in PubMed for subaortic stenosis-short stature syndrome. Research spans Review / Meta-Analysis (27%), Case Report / Case Series (27%), and Epidemiology / Natural History (27%).

Research Type	Count	% of Total
Research summaries	3	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:271960

Orphanet

European rare disease database

Orphanet:3191

GARD

Genetic and Rare Diseases Info Center

GARD:405

Questions for Your Care Team

→What are the benefits and potential side effects of Nutropin for managing subaortic stenosis-short stature syndrome?
→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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Kisho

subaortic stenosis-short stature syndrome

Overview

Clinical Presentation

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

subaortic stenosis-short stature syndrome

Overview

Clinical Presentation

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications