Living with Subaortic stenosis-short stature syndrome
A rare genetic condition with short stature and narrowing of the heart's outflow just below the aortic valve.
Understanding Subaortic stenosis-short stature syndrome
The narrowing (subaortic stenosis) gets worse over time. Other features can include an upturned nose, voice and vocal cord differences, lung disease, hernia in the groin, and a curved spine. Some people have eye differences or widely spaced teeth. Signs may begin at birth. GARD notes no further descriptions in the literature since 1984.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Narrowing below the aortic valve
- Heart rhythm changes
- Voice or vocal cord differences
- Curved spine (scoliosis or kyphosis)
- Groin hernia
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 heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Adult Congenital Heart Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Adult Congenital Heart Association
- 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 Adult Congenital Heart Association
- 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 genes (variants) cause this condition. GARD doesn't list which gene or how it is inherited.
Also known as: onat syndrome; subaortic stenosis and short stature syndrome
Patient organizations
- Adult Congenital Heart AssociationSubaortic stenosis-short stature syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Subaortic stenosis-short stature syndrome.
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