Living with Brachydactyly-arterial hypertension syndrome
A rare genetic condition with short fingers and toes and high blood pressure that often begins in childhood.
Understanding Brachydactyly-arterial hypertension syndrome
People also tend to have short stature, low birth weight compared with relatives, a stocky build, and a round face. High blood pressure often begins in childhood and is linked to blood vessel or nerve-and-blood-vessel differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High blood pressure (hypertension)
- Short fingers or toes (brachydactyly)
- Short finger bones
- Short stature
- Shortened bones in the hand
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in PDE3A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PDE3A gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bilginturan brachydactyly; bilginturan syndrome; brachydactyly and arterial hypertension syndrome; brachydactyly type e with short stature and hypertension; brachydactyly type e, with short stature and hypertension
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Brachydactyly-arterial hypertension syndrome.
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