Living with Trichorhinophalangeal dysplasia type I
A genetic condition with sparse hair, a rounded nose tip, short bones in the fingers and toes, and sometimes hip problems.
Understanding Trichorhinophalangeal dysplasia type I
The name refers to the hair (tricho-), nose (rhino-), and fingers and toes (phalangeal). Finger and toe bones can have cone-shaped ends, and nails are thin. Hip joints can be misaligned, and joints may wear down over time. Almost everyone has sparse scalp hair, and males often lose most of it after puberty.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse scalp hair
- Broad nose with a rounded tip
- Cone-shaped ends of finger or toe bones
- Thin, fragile nails
- Hip joint problems
- Small teeth, or too few or too many teeth
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.
- 3Consider genetic testing
Changes in TRPS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
This condition is caused by changes in the TRPS1 gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: sugio-kajii syndrome; trichorhinophalangeal dysplasia (syndrome) types 1/3; trichorhinophalangeal dysplasia types 1/3; trichorhinophalangeal syndrome i; trichorhinophalangeal syndrome type 1; trichorhinophalangeal syndrome type i
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 dysplasia type I.
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