Overview
Autosomal dominant preaxial polydactyly-upper back hypertrichosis syndrome is a very rare genetic condition that affects the hands and the skin of the upper back. 'Preaxial polydactyly' means that a person is born with one or more extra fingers on the thumb side of the hand. 'Upper back hypertrichosis' means there is an unusual patch or area of extra hair growth on the upper back. Both of these features are present from birth, making this a congenital condition — meaning it develops before a baby is born. The syndrome is caused by a change (mutation) in a person's DNA that can be passed down through families in an autosomal dominant pattern. This means that only one copy of the changed gene is enough to cause the condition, and a parent with the syndrome has a 50% chance of passing it to each child. Because this condition is extremely rare and mainly involves physical differences in the fingers and skin, it does not typically affect a person's thinking, learning, or internal organs. Treatment is focused on managing the extra finger, usually through surgery, and monitoring the skin changes. There is no cure needed in the traditional sense, as the condition is not life-threatening. A clinical geneticist, hand surgeon, and dermatologist are the main specialists involved in care.
Key symptoms:
Extra finger or thumb on the thumb side of one or both hands (preaxial polydactyly)Unusual patch of extra hair on the upper back (hypertrichosis)The extra finger may be fully formed or partially developedThe extra hair on the back may be darker or coarser than surrounding hairPossible mild differences in hand function depending on the extra digit
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Does my child need surgery for the extra finger, and if so, when is the best time to do it?,What kind of hand function can we expect after surgery?,Should other family members be tested or examined for this condition?,Is genetic testing recommended to identify the specific gene change causing this?,Does the extra hair on the back need any medical monitoring or treatment?,Are there any other health checks or screenings recommended for this syndrome?,Are there support groups or other families we can connect with who have experience with this condition?
Common questions about Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
What is Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?
Autosomal dominant preaxial polydactyly-upper back hypertrichosis syndrome is a very rare genetic condition that affects the hands and the skin of the upper back. 'Preaxial polydactyly' means that a person is born with one or more extra fingers on the thumb side of the hand. 'Upper back hypertrichosis' means there is an unusual patch or area of extra hair growth on the upper back. Both of these features are present from birth, making this a congenital condition — meaning it develops before a baby is born. The syndrome is caused by a change (mutation) in a person's DNA that can be passed down
How is Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome inherited?
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome typically begin?
Typical onset of Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome is neonatal. Age of onset can vary across affected individuals.