Overview
Oculomaxillofacial dysostosis, also known as oculo-maxillo-facial dysostosis or sometimes referred to in relation to similar conditions as a craniofacial dysostosis, is an extremely rare congenital condition that affects the development of the bones and structures of the face, eyes, and jaw. The condition is present at birth and involves abnormal formation of the bones around the eyes (orbital area), the upper jaw (maxilla), and other facial structures. Key features typically include underdevelopment of the cheekbones and upper jaw, abnormalities of the eyes such as small eyes (microphthalmia) or other eye malformations, and facial asymmetry. Some individuals may also have eyelid abnormalities, a small or recessed chin, and dental problems. Because this condition is so rare, the medical understanding of it is limited. Treatment is primarily supportive and symptom-based. Surgical correction of facial bone abnormalities and eye-related issues may be considered depending on severity. A team of specialists including craniofacial surgeons, ophthalmologists, and dentists typically work together to manage the various aspects of this condition. Early intervention and coordinated care can help improve quality of life and functional outcomes for affected individuals.
Also known as:
Key symptoms:
Underdeveloped cheekbonesSmall or underdeveloped upper jawAbnormally small eyesEyelid abnormalities such as drooping or narrowingFacial asymmetrySmall or recessed chinDental abnormalities or missing teethFlattened midfaceOblique or slanted eye openingsPossible vision problemsPossible hearing difficultiesCleft palate or high-arched palate
Clinical phenotype terms (21)— 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 Oculomaxillofacial dysostosis.
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View all trials with filters →No actively recruiting trials found for Oculomaxillofacial dysostosis at this time.
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Specialists
View all specialists →No specialists are currently listed for Oculomaxillofacial dysostosis.
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 Oculomaxillofacial dysostosis.
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.How severe are the facial bone and eye abnormalities in my child's case?,What surgeries or procedures might be needed, and at what ages?,How will this condition affect my child's vision, and what monitoring is needed?,Should we pursue genetic testing to look for an underlying cause?,Are there any breathing or feeding concerns we should watch for?,What therapies (speech, dental, psychological) would benefit my child?,Can you connect us with other families or support groups for craniofacial conditions?
Common questions about Oculomaxillofacial dysostosis
What is Oculomaxillofacial dysostosis?
Oculomaxillofacial dysostosis, also known as oculo-maxillo-facial dysostosis or sometimes referred to in relation to similar conditions as a craniofacial dysostosis, is an extremely rare congenital condition that affects the development of the bones and structures of the face, eyes, and jaw. The condition is present at birth and involves abnormal formation of the bones around the eyes (orbital area), the upper jaw (maxilla), and other facial structures. Key features typically include underdevelopment of the cheekbones and upper jaw, abnormalities of the eyes such as small eyes (microphthalmia)
At what age does Oculomaxillofacial dysostosis typically begin?
Typical onset of Oculomaxillofacial dysostosis is neonatal. Age of onset can vary across affected individuals.