Overview
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome is a very rare inherited condition that affects the skin, hair, nails, and sweat glands — structures that all develop from the same layer of tissue in the embryo called the ectoderm. The name describes its three main features: ectodermal dysplasia (abnormal development of skin and related structures), pili torti (twisted hair shafts that are fragile and break easily), and cutaneous syndactyly (skin webbing between the fingers or toes). This condition is sometimes referred to simply by its Orphanet code ORPHA:247820, as it is so rare that no widely used shorthand name has been established. People with this syndrome are typically noticed at birth or in early infancy because of their unusual hair texture and the webbing between digits. The hair tends to be sparse, brittle, and twisted, which can cause it to break close to the scalp. Sweating may be reduced or absent, which means the body has trouble regulating temperature — this can be dangerous in hot weather. Nails may be thickened, ridged, or abnormally shaped. Skin between fingers or toes may be fused together, which can affect hand function depending on severity. There is currently no cure for this condition. Treatment focuses on managing individual symptoms — protecting the hair and skin, preventing overheating, and surgically separating fused digits when needed to improve function. A team of specialists is usually needed to provide the best care.
Key symptoms:
Twisted, fragile hair that breaks easily (pili torti)Sparse or thin hair on the scalpSkin webbing between fingers or toes (cutaneous syndactyly)Reduced or absent sweating (hypohidrosis or anhidrosis)Difficulty regulating body temperatureThickened, ridged, or abnormally shaped nailsDry or abnormal skin texturePossible dental abnormalities such as missing or malformed teethBrittle nails that break easily
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ectodermal dysplasia-pili torti-cutaneous syndactyly 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 Ectodermal dysplasia-pili torti-cutaneous syndactyly 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 identify the specific gene involved?,How serious is the risk of overheating, and what is our emergency plan if my child's temperature rises dangerously?,When is the best time to consider surgery for the webbed fingers or toes, and what outcomes can we expect?,Are there any other organ systems we should monitor that might be affected by this condition?,What accommodations should we request at school to keep my child safe?,What are the chances that future children could be affected, and should other family members be tested?,Are there any research studies or patient registries we can join to help advance understanding of this condition?
Common questions about Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
What is Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome?
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome is a very rare inherited condition that affects the skin, hair, nails, and sweat glands — structures that all develop from the same layer of tissue in the embryo called the ectoderm. The name describes its three main features: ectodermal dysplasia (abnormal development of skin and related structures), pili torti (twisted hair shafts that are fragile and break easily), and cutaneous syndactyly (skin webbing between the fingers or toes). This condition is sometimes referred to simply by its Orphanet code ORPHA:247820, as it is so rare
How is Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome inherited?
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome typically begin?
Typical onset of Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome is neonatal. Age of onset can vary across affected individuals.