Overview
Oculo-oto-facial dysplasia is a very rare condition that affects the development of the eyes, ears, and face before birth. The name comes from the Latin and Greek words for eye (oculo), ear (oto), and face (facial). It is sometimes referred to by the abbreviation OOFD. Children born with this condition typically have a combination of problems involving how the eyes look and function, how the ears are formed and how well they hear, and differences in the structure of the face. These features are present from birth and are caused by abnormal development during pregnancy. The exact features can vary from person to person, but common signs include small or unusually shaped eyes, hearing loss related to ear abnormalities, and differences in facial structure such as a small jaw or unusual spacing of facial features. Because multiple body systems are involved, children with this condition often need care from several different types of specialists. There is currently no cure for oculo-oto-facial dysplasia. Treatment focuses on managing each individual symptom. For example, hearing aids or other devices may help with hearing loss, and eye care specialists can monitor and treat vision problems. Surgery may sometimes be considered for certain facial or structural differences. Early intervention and supportive therapies are important to help children reach their full potential.
Key symptoms:
Small or abnormally shaped eyesHearing lossAbnormally formed outer earsDifferences in facial structure such as a small jawWidely spaced or closely set eyesUnderdeveloped facial bonesPossible vision problemsDifferences in the shape or size of the nosePossible abnormalities of the eyelids
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 Oculo-oto-facial dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Oculo-oto-facial dysplasia at this time.
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Specialists
View all specialists →No specialists are currently listed for Oculo-oto-facial dysplasia.
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 Oculo-oto-facial dysplasia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 does my child have, and how severe are they?,What type of genetic testing do you recommend, and what might it tell us?,Which specialists should be part of my child's care team?,What hearing and vision supports are available for my child?,Are there any clinical trials or research studies we could participate in?,What early intervention services should we start right away?,What should I watch for that would mean my child needs to be seen urgently?
Common questions about Oculo-oto-facial dysplasia
What is Oculo-oto-facial dysplasia?
Oculo-oto-facial dysplasia is a very rare condition that affects the development of the eyes, ears, and face before birth. The name comes from the Latin and Greek words for eye (oculo), ear (oto), and face (facial). It is sometimes referred to by the abbreviation OOFD. Children born with this condition typically have a combination of problems involving how the eyes look and function, how the ears are formed and how well they hear, and differences in the structure of the face. These features are present from birth and are caused by abnormal development during pregnancy. The exact features can
At what age does Oculo-oto-facial dysplasia typically begin?
Typical onset of Oculo-oto-facial dysplasia is neonatal. Age of onset can vary across affected individuals.