Living with Tibia, hypoplasia or aplasia of, with polydactyly
A rare genetic condition with differences in the thumbs, hands, and feet, and an underdeveloped or missing shinbone.
Understanding Tibia, hypoplasia or aplasia of, with polydactyly
It typically involves thumbs with three bones, extra or joined fingers and toes, and a small or missing shinbone (tibia). Short stature is often present. Features vary a lot, even within one family. It starts during pregnancy and is noticed at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing shinbone (tibia)
- Small or missing thumb
- Differences in the calf bone (fibula)
- Missing kneecap
- Fused wrist bones
- Short stature
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 changes in genes (variants) cause this condition. It lists both autosomal dominant and autosomal recessive inheritance and doesn't name a specific gene.
Also known as: absent tibia-polydactyly syndrome; hypoplastic or aplastic tibia with polydactyly; hypoplastic tibiae-postaxial polydactyly syndrome; mesomelic dysplasia, werner type; polydactyly with absent tibia; thyp
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 Tibia, hypoplasia or aplasia of, with polydactyly.
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