Overview
Trichorhinophalangeal syndrome (TRPS) is a rare genetic condition that affects the growth and development of bones, joints, and hair. The Orphanet code 324764 refers to the broader grouping of TRPS types. There are three main types: TRPS type I, TRPS type II (also called Langer-Giedion syndrome), and TRPS type III. All types share certain features, but they vary in severity. The hallmark features of TRPS include sparse, thin hair that grows slowly, a distinctive pear-shaped or bulbous nose, and short fingers and toes with cone-shaped growth plates (called cone-shaped epiphyses). People with TRPS often have short stature and may develop early joint problems similar to arthritis, especially in the hips. TRPS type II can also include intellectual disability and multiple bony growths called exostoses. There is no cure for TRPS, so treatment focuses on managing symptoms. This may include orthopedic care for joint and bone problems, growth hormone therapy for short stature in some cases, and supportive therapies. Early diagnosis helps families plan appropriate medical follow-up and support throughout life.
Key symptoms:
Thin, sparse, slow-growing hairBulbous or pear-shaped noseShort fingers and toes (brachydactyly)Short statureHip joint pain or early arthritisCone-shaped growth plates in the finger bonesThin upper lipProminent earsLoose or overly flexible joints in childhoodStiff or painful joints later in lifeBony bumps or growths on bones (in TRPS type II)Mild to moderate intellectual disability (mainly in TRPS type II)Delayed bone ageFlat feet
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.
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Specialists
View all specialists →No specialists are currently listed for Trichorhinophalangeal 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 Trichorhinophalangeal 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.Which type of trichorhinophalangeal syndrome does my child (or do I) have?,How often should we have X-rays or imaging to monitor the hips and joints?,Would growth hormone therapy be appropriate in this case?,What physical activities are safe, and which should be avoided to protect the joints?,Are there any signs of complications I should watch for at home?,Should other family members be tested for this condition?,What support services are available for learning or developmental needs?
Common questions about Trichorhinophalangeal syndrome
What is Trichorhinophalangeal syndrome?
Trichorhinophalangeal syndrome (TRPS) is a rare genetic condition that affects the growth and development of bones, joints, and hair. The Orphanet code 324764 refers to the broader grouping of TRPS types. There are three main types: TRPS type I, TRPS type II (also called Langer-Giedion syndrome), and TRPS type III. All types share certain features, but they vary in severity. The hallmark features of TRPS include sparse, thin hair that grows slowly, a distinctive pear-shaped or bulbous nose, and short fingers and toes with cone-shaped growth plates (called cone-shaped epiphyses). People with T
How is Trichorhinophalangeal syndrome inherited?
Trichorhinophalangeal syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Trichorhinophalangeal syndrome typically begin?
Typical onset of Trichorhinophalangeal syndrome is childhood. Age of onset can vary across affected individuals.