Living with Radial deficiency-tibial hypoplasia syndrome
A rare genetic condition in which parts of the arm and leg bones are missing or underdeveloped at birth.
Understanding Radial deficiency-tibial hypoplasia syndrome
It involves missing radius bones in both forearms, missing thumbs, and missing or underdeveloped shin bones (tibia) on both sides. Other bone differences may include partly missing toes, a short fibula, and clubhand. GARD lists onset during pregnancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Missing forearm bones (radial aplasia) on both sides
- Missing thumbs
- Missing or underdeveloped shin bones
- Partly missing toes
- Short fibula
- Clubhand
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 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 says gene changes cause this condition. It doesn't name a gene or describe inheritance yet.
Also known as: radial deficiency, tibial hypoplasia 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 Radial deficiency-tibial hypoplasia syndrome.
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