Living with Oculoauriculofrontonasal syndrome
A rare condition that affects how the middle of the face, eyes, nose, and ears form before birth.
Understanding Oculoauriculofrontonasal syndrome
Features vary widely. They can include widely spaced eyes, eyelid and eye surface differences, nose differences, small or malformed ears, cleft lip or palate, small jaws, and uneven face shape. Brain differences and features outside the head and face are frequent. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft lip
- Small or missing ears (microtia) and skin tags near the ears
- Hearing loss from the middle ear (conductive)
- Cleft upper eyelid (eyelid coloboma)
- Small lower jaw (micrognathia)
- Facial asymmetry
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
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: oafns; oafns - oculoauriculofrontonasal syndrome; oculoauriculofrontonasal dysplasia
Patient organizations
- Children's Craniofacial AssociationOculoauriculofrontonasal syndrome · United States
- FACES: The National Craniofacial AssociationOculoauriculofrontonasal syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculoauriculofrontonasal syndrome.
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