Living with Focal facial dermal dysplasia type III
A rare condition with scar-like dents on both temples at birth and variable facial features, linked to the TWIST2 gene.
Understanding Focal facial dermal dysplasia type III
Facial features vary and may include double or missing eyelashes, slanted eyebrows, and a flat or rounded nose tip. Others include a low hairline, sparse hair, loose skin, skin folds at the inner eyes, low-set ears, and eyelid or eye surface inflammation.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Scar-like dents on the temples
- Double or missing eyelashes (distichiasis)
- Slanted, sparse eyebrows
- Flat or wide nasal bridge
- Sparse hair and loose skin
- Prematurely aged appearance
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in TWIST2 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
- 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
Changes in the TWIST2 gene cause it. GARD says it can be inherited in an autosomal dominant or autosomal recessive way.
Also known as: bitemporal forceps marks syndrome; ffdd type 2; ffdd type iii; ffdd3; focal facial dermal dysplasia 3; focal facial dermal dysplasia 3, setleis type
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 Focal facial dermal dysplasia type III.
Explore research for Focal facial dermal dysplasia type III
Explore actively recruiting Focal facial dermal dysplasia type III studies with HealthSpark.
Find actively recruiting studies for Focal facial dermal dysplasia type III 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 Focal facial dermal dysplasia type III 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 Focal facial dermal dysplasia type III
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 Focal facial dermal dysplasia type III 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.