Living with Trichorhinophalangeal syndrome
A genetic condition with distinctive facial features, fine sparse hair, and short fingers and feet, in two types.
Understanding Trichorhinophalangeal syndrome
Both types include a large nose with a broad tip, thick eyebrows, a long philtrum, large ears, fine sparse hair, and thin nails. Bone findings include short stature, short fingers and feet, and early hip problems. TRPS II also has multiple bony growths (osteochondromas) and a higher chance of mild to moderate intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Large nose with a broad tip
- Fine, sparse, slow-growing hair
- Thin, poorly formed nails
- Short stature and short fingers and feet
- Early, marked hip problems
- Multiple bony growths in TRPS II
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
TRPS I is caused by a change in one copy of the TRPS1 gene. TRPS II is caused by a deletion that includes the TRPS1, RAD21, and EXT1 genes.
Also known as: trps
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Trichorhinophalangeal syndrome.
Explore research for Trichorhinophalangeal syndrome
Explore actively recruiting Trichorhinophalangeal syndrome studies with HealthSpark.
Find actively recruiting studies for Trichorhinophalangeal syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Trichorhinophalangeal syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Trichorhinophalangeal syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Trichorhinophalangeal syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.