Overview
Thumb deformity-alopecia-pigmentation anomaly syndrome (also sometimes called TAP syndrome) is a very rare genetic condition that affects several parts of the body at the same time. The name describes its three main features: unusual thumb shape or structure, hair loss (alopecia), and abnormal skin coloring (pigmentation changes). These features are present from birth or become noticeable in early childhood. The thumb abnormalities can range from a thumb that is smaller than usual, bent, or missing a joint, to more significant structural differences. Hair loss may affect the scalp and sometimes other areas of the body. Skin pigmentation changes can appear as patches of lighter or darker skin in various locations. Because this syndrome is so rare, treatment is focused on managing each symptom individually rather than treating an underlying cause. Children with this condition may benefit from hand therapy or surgery to improve thumb function, dermatology care for skin and hair concerns, and regular monitoring by a clinical geneticist. The overall outlook varies depending on how severely each feature is affected, but many individuals lead full lives with appropriate support and care.
Also known as:
Key symptoms:
Abnormal thumb shape or structure (small, bent, or missing a joint)Partial or complete hair loss on the scalpPatches of lighter or darker skin (pigmentation changes)Thin or sparse hair on the bodyNail abnormalitiesPossible differences in other fingers or toesSkin that may be unusually sensitive
Clinical phenotype terms (23)— hover any for plain English
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 Thumb deformity-alopecia-pigmentation anomaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Thumb deformity-alopecia-pigmentation anomaly 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 Thumb deformity-alopecia-pigmentation anomaly 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What genetic tests should we do to confirm the diagnosis and understand the cause?,What specialists should be part of my child's care team?,Are there any surgeries or therapies that could improve my child's thumb function?,How will this condition change as my child grows older?,What support is available for the emotional and social challenges of visible differences like hair loss?,Is there a patient registry or research study we could join to help advance understanding of this condition?,What are the chances that other family members or future children could be affected?
Common questions about Thumb deformity-alopecia-pigmentation anomaly syndrome
What is Thumb deformity-alopecia-pigmentation anomaly syndrome?
Thumb deformity-alopecia-pigmentation anomaly syndrome (also sometimes called TAP syndrome) is a very rare genetic condition that affects several parts of the body at the same time. The name describes its three main features: unusual thumb shape or structure, hair loss (alopecia), and abnormal skin coloring (pigmentation changes). These features are present from birth or become noticeable in early childhood. The thumb abnormalities can range from a thumb that is smaller than usual, bent, or missing a joint, to more significant structural differences. Hair loss may affect the scalp and sometim
How is Thumb deformity-alopecia-pigmentation anomaly syndrome inherited?
Thumb deformity-alopecia-pigmentation anomaly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Thumb deformity-alopecia-pigmentation anomaly syndrome typically begin?
Typical onset of Thumb deformity-alopecia-pigmentation anomaly syndrome is neonatal. Age of onset can vary across affected individuals.