Living with Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
A rare genetic syndrome with extra or duplicated thumbs and toes and extra hair on the upper back.
Understanding Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
People have extra or duplicated digits on the thumb side of the hands and feet. Hair growth extends from the back of the hairline to the middle of the back. Features are seen from birth and can vary from person to person.
Signs & symptoms
GARD describes these main features:
- Extra or duplicated thumbs
- Thumbs with three bones (triphalangeal)
- Joined thumb and index finger (syndactyly)
- Large or duplicated big toe
- Extra hair on the upper back (hypertrichosis)
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 skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SHH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
It is caused by changes in the SHH gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome.
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