Overview
Oculoauriculofrontonasal syndrome (OAFNS) is an extremely rare condition present from birth that affects the development of the eyes, ears, forehead, and nose. It is sometimes described as a combination of features seen in two other conditions: oculoauriculovertebral spectrum (also known as Goldenhar syndrome) and frontonasal dysplasia. Because of this overlap, OAFNS is sometimes called a combined or bridging condition between these two syndromes. People with OAFNS may have a wide range of physical differences. These can include widely spaced eyes, a broad or split nose, skin tags or pits near the ears, underdeveloped ears, upper eyelid notches (colobomas), and sometimes a cleft lip or palate. The forehead and hairline may also appear unusual. Some individuals may have mild to moderate intellectual disability, though many have normal intelligence. The severity of features varies greatly from person to person, even within the same family. There is currently no cure for OAFNS. Treatment focuses on managing individual symptoms and may involve surgery to correct facial differences, hearing aids if hearing is affected, speech therapy, and educational support. A team of specialists typically works together to provide the best care for each person's unique needs.
Also known as:
Key symptoms:
Widely spaced eyes (hypertelorism)Broad or split noseCleft lip or cleft palateUnderdeveloped or abnormally shaped earsSkin tags or small pits near the earsNotch or gap in the upper eyelid (eyelid coloboma)Asymmetry of the faceUnusual forehead shape or widow's peak hairlineHearing lossSmall jaw on one or both sidesEye abnormalities such as small eyes or dermoid cysts on the eyeMild to moderate intellectual disability in some casesSpeech and language delaysSpine abnormalities in some cases
Clinical phenotype terms (22)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Oculoauriculofrontonasal syndrome.
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Specialists
View all specialists →No specialists are currently listed for Oculoauriculofrontonasal syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Oculoauriculofrontonasal syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific features of OAFNS does my child have, and how severe are they?,Will my child need surgery, and if so, what is the recommended timeline?,Should we have genetic testing done, and what might it tell us?,What is the risk of this condition occurring again in future pregnancies?,What therapies (speech, hearing, developmental) should we start and when?,How often should my child have hearing and vision checked?,Are there any craniofacial teams or centers of excellence you recommend for ongoing care?
Common questions about Oculoauriculofrontonasal syndrome
What is Oculoauriculofrontonasal syndrome?
Oculoauriculofrontonasal syndrome (OAFNS) is an extremely rare condition present from birth that affects the development of the eyes, ears, forehead, and nose. It is sometimes described as a combination of features seen in two other conditions: oculoauriculovertebral spectrum (also known as Goldenhar syndrome) and frontonasal dysplasia. Because of this overlap, OAFNS is sometimes called a combined or bridging condition between these two syndromes. People with OAFNS may have a wide range of physical differences. These can include widely spaced eyes, a broad or split nose, skin tags or pits nea
At what age does Oculoauriculofrontonasal syndrome typically begin?
Typical onset of Oculoauriculofrontonasal syndrome is neonatal. Age of onset can vary across affected individuals.