Overview
Trichothiodystrophy (TTD) is a rare inherited condition that mainly affects the hair, skin, nails, and nervous system. The name comes from Greek words meaning 'sulfur-deficient hair' — one of the most recognizable features is brittle hair that breaks easily and has unusually low levels of sulfur. When viewed under a special microscope with polarized light, the hair shows a distinctive 'tiger tail' banding pattern, which is a key clue for diagnosis. TTD affects many parts of the body. People with TTD often have intellectual disability, delayed development, short stature, and problems with coordination. The skin may be dry and scaly (a condition called ichthyosis), and the nails can be brittle. Some people with TTD are also very sensitive to sunlight because their cells have trouble repairing DNA damage caused by ultraviolet (UV) rays. Other features can include a small head size (microcephaly), fertility problems, and a weakened immune system that makes infections more likely. The severity of TTD varies widely from person to person — some individuals have mild symptoms while others are more severely affected. There is currently no cure for TTD. Treatment focuses on managing symptoms, such as protecting the skin, supporting development through therapies, and preventing infections. A team of specialists is usually needed to provide the best care.
Key symptoms:
Brittle hair that breaks easilyHair with low sulfur content and a 'tiger tail' pattern under polarized lightDry, scaly skin (ichthyosis)Brittle nailsIntellectual disability or learning difficultiesDelayed development (walking, talking later than expected)Short statureSmall head size (microcephaly)Sensitivity to sunlight (in some forms)Poor coordination and balance problemsWeakened immune system leading to frequent infectionsFertility problems in some individualsCataracts (clouding of the eye lens) in some cases
Clinical phenotype terms (50)— hover any for plain English
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 Trichothiodystrophy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Trichothiodystrophy at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
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 Trichothiodystrophy.
Community
No community posts yet. Be the first to share your experience with Trichothiodystrophy.
Start the conversation →Latest news about Trichothiodystrophy
No recent news articles for Trichothiodystrophy.
Follow this condition to be notified when news becomes available.
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.Which gene is causing TTD in my child, and what does that mean for their specific symptoms and outlook?,Does my child have the form of TTD with UV sensitivity, and how strictly do we need to protect them from sunlight?,What therapies (physical, occupational, speech) should my child start, and how often?,How often should my child be seen by each specialist, and what should we be monitoring over time?,Are there any clinical trials or research studies that my child might be eligible for?,What signs of infection or other complications should prompt an emergency visit?,Are other family members at risk, and should siblings or parents be tested?
Common questions about Trichothiodystrophy
What is Trichothiodystrophy?
Trichothiodystrophy (TTD) is a rare inherited condition that mainly affects the hair, skin, nails, and nervous system. The name comes from Greek words meaning 'sulfur-deficient hair' — one of the most recognizable features is brittle hair that breaks easily and has unusually low levels of sulfur. When viewed under a special microscope with polarized light, the hair shows a distinctive 'tiger tail' banding pattern, which is a key clue for diagnosis. TTD affects many parts of the body. People with TTD often have intellectual disability, delayed development, short stature, and problems with coor
How is Trichothiodystrophy inherited?
Trichothiodystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Trichothiodystrophy typically begin?
Typical onset of Trichothiodystrophy is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Trichothiodystrophy?
2 specialists and care centers treating Trichothiodystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.