Living with Frontorhiny
A rare condition with distinct nose and face differences, such as wide-set eyes and a wide nasal bridge, present from birth.
Understanding Frontorhiny
Features include wide-set eyes, a wide nasal bridge, a broad columella (the tissue between the nostrils), a wide space between the nose and upper lip, a poorly formed nasal tip, a notch in the upper gum, and a low hairline. Some people also have droopy eyelids and cysts in the face or head area. It starts at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide-set eyes
- Wide nasal bridge
- Cleft palate or cleft tongue
- Droopy upper eyelids
- Small eyeball or cataract
- Hearing loss
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in ALX3 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
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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 ALX3 gene cause it. Autosomal recessive inheritance has been proposed, which means a child inherits a changed copy of the gene from each parent.
Also known as: alx homeobox 3-related frontonasal dysplasia; alx3-related frontonasal dysplasia; fnd1; frontonasal dysplasia 1; frontonasal dysplasia type 1; frontonasal malformation
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Frontorhiny.
Explore research for Frontorhiny
Explore actively recruiting Frontorhiny studies with HealthSpark.
Find actively recruiting studies for Frontorhiny 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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