Living with Short stature-valvular heart disease-characteristic facies syndrome
A rare genetic condition with severe short height, heart valve problems and distinct facial features.
Understanding Short stature-valvular heart disease-characteristic facies syndrome
People have severe short stature with disproportionately short legs and small hands. They have heart valve disease and facial features that include drooping eyelids and a high palate. Teeth can be crowded or unusual. Joints may be very flexible. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature with short legs
- Heart valve problems
- Mitral valve prolapse
- Narrowing of the pulmonic valve
- Drooping upper eyelids (ptosis)
- Very flexible joints
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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
GARD doesn't list a gene. It says the condition is probably inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: disproportionate short stature with ptosis and valvular heart lesions
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Short stature-valvular heart disease-characteristic facies syndrome.
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