Living with Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
A rare genetic syndrome with short fingers, short forearms, learning delays, and heart differences.
Understanding Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
It is noticed at birth. People often have a thin build with narrow shoulders and distinct facial features, including a long lower face, beaked nose, and high-arched palate. Heart differences include a widened aortic root and a mitral valve that does not close well (prolapse).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay and intellectual disability
- Short fingers or toes (brachydactyly)
- Short forearms and lower legs (mesomelia)
- Heart valve differences
- Beaked nose and small lower jaw
- Missing teeth
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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
Changes in genes cause this condition. GARD doesn't name a specific gene yet.
Also known as: brachydactyly, mesomelia, intellectual disability, heart defect syndrome; stratton garcia young syndrome; stratton-garcia-young syndrome
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 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome.
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