brachydactyly-arterial hypertension syndrome
Findings
No curated finding names brachydactyly-arterial hypertension syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007211), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypertensionHPOHP:0000822
- 47 of 47 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 47 of 47 reported patients
- Very frequent (80% to 99% of cases)
- Type E brachydactylyHPOHP:0005863
- 46 of 47 reported patients
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short phalanx of fingerHPOHP:0009803
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDE3AHGNC:8778
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: brachydactyly-arterial hypertension syndrome
- Also called
- Bilginturan brachydactylyBilginturan syndromebrachydactyly type E, with short stature and hypertension