Living with Frontonasal dysplasia
A condition in which the head and face develop differently before birth, often with wide-set eyes and a broad or split nose.
Understanding Frontonasal dysplasia
People have at least two features such as widely spaced eyes, a broad nose, a split in the nose, no nasal tip, a central cleft in the nose, lip or palate, or a widow's peak hairline. Other features may include differences in the brain's corpus callosum and intellectual disability. There are at least three types, with the most severe facial differences in type 3.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Wide-set eyes (hypertelorism)
- Broad or split nose
- Cleft in the nose, lip or palate
- Widow's peak hairline
- Incomplete formation of the front of the skull
- Intellectual disability in some people
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Craniofacial Association 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 genes cause it, and the three types are distinguished by their genetic causes. GARD doesn't name a gene here.
Also known as: fnd; frontonasal dysplasia sequence; median cleft face syndrome; median facial cleft syndrome
Patient organizations
- Children's Craniofacial AssociationFrontonasal dysplasia · United States
- FACES: The National Craniofacial AssociationFrontonasal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Frontonasal dysplasia.
Explore research for Frontonasal dysplasia
Explore actively recruiting Frontonasal dysplasia studies with HealthSpark.
Find actively recruiting studies for Frontonasal dysplasia 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 Frontonasal dysplasia 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 Frontonasal dysplasia
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 Frontonasal dysplasia 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.