Kisho

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

brachydactyly-arterial hypertension syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brachydactyly-arterial hypertension syndrome

MONDO:0007211

Also known as:Bilginturan brachydactylyBilginturan syndromebrachydactyly type E, with short stature and hypertension

Overview

Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

GeneticsAutosomal dominant · PDE3A (chr 12)

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 and Hypertension; and very common findings: Type E brachydactyly. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature
Heart and blood vessels

Genetic Landscape

PDE3A function has not been fully characterized.

Brachydactyly-arterial hypertension syndrome is associated with mutations in the PDE3A gene on chromosome 12.

Diagnosis

Genetic testing for PDE3A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for brachydactyly-arterial hypertension syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature.

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 brachydactyly-arterial hypertension syndrome.

204 publications have been identified in PubMed for brachydactyly-arterial hypertension syndrome. Research spans Review / Meta-Analysis (39%), Epidemiology / Natural History (28%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Research summaries	66	39%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112410

Orphanet

European rare disease database

Orphanet:1276

GARD

Genetic and Rare Diseases Info Center

GARD:967

Questions for Your Care Team

→Should I pursue genetic testing for PDE3A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

brachydactyly-arterial hypertension syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

brachydactyly-arterial hypertension syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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

Recent Publications