Overview
Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare genetic condition that mainly affects the hair, face, and bones — especially the fingers and toes. The name comes from the Greek and Latin words for hair (tricho), nose (rhino), and fingers/toes (phalangeal). It is sometimes called Giedion syndrome or TRPS type I. People with this condition are born with it, and signs are usually noticed in childhood. The most recognizable features include sparse, thin, slow-growing scalp hair, a bulb-shaped or pear-shaped nose, and short fingers and toes with cone-shaped bone tips (called cone-shaped epiphyses on X-ray). Many people also have a long upper lip, large ears that stick out, and a small lower jaw. Joint problems and mild short stature are also common. Intelligence is usually normal, though some people may have mild learning differences. There is no cure for TRPS1, but many of the symptoms can be managed. Orthopedic care can help with joint and bone problems, and early therapy can support development. Most people with TRPS1 live a normal lifespan and can lead full, independent lives with the right support and monitoring.
Key symptoms:
Sparse, thin, and slow-growing scalp hairBulb-shaped or pear-shaped noseShort fingers and toesCone-shaped bone tips in the fingers (seen on X-ray)Long upper lip with a thin upper lip borderLarge or prominent earsSmall lower jawMild short statureHip problems, including hip dysplasiaJoint pain or stiffnessBrittle or slow-growing nailsEyebrows that are thin on the outer edgesTeeth that come in late or are crowded
Clinical phenotype terms (29)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Trichorhinophalangeal syndrome type 1.
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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 Trichorhinophalangeal syndrome type 1.
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 specific features of TRPS1 should I watch for as my child grows?,Does my child need X-rays of their hips and hands, and how often should these be repeated?,Should other family members be tested for this condition?,Are there any specialists I should see regularly, such as an orthopedic surgeon or orthodontist?,Is growth hormone therapy something we should consider if my child is significantly shorter than peers?,Are there patient registries or research studies we can join to help advance understanding of this condition?,What signs or symptoms should prompt me to seek urgent medical attention?
Common questions about Trichorhinophalangeal syndrome type 1
What is Trichorhinophalangeal syndrome type 1?
Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare genetic condition that mainly affects the hair, face, and bones — especially the fingers and toes. The name comes from the Greek and Latin words for hair (tricho), nose (rhino), and fingers/toes (phalangeal). It is sometimes called Giedion syndrome or TRPS type I. People with this condition are born with it, and signs are usually noticed in childhood. The most recognizable features include sparse, thin, slow-growing scalp hair, a bulb-shaped or pear-shaped nose, and short fingers and toes with cone-shaped bone tips (called cone-shaped ep
How is Trichorhinophalangeal syndrome type 1 inherited?
Trichorhinophalangeal syndrome type 1 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Trichorhinophalangeal syndrome type 1 typically begin?
Typical onset of Trichorhinophalangeal syndrome type 1 is childhood. Age of onset can vary across affected individuals.
Which specialists treat Trichorhinophalangeal syndrome type 1?
2 specialists and care centers treating Trichorhinophalangeal syndrome type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.