Overview
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is an extremely rare genetic condition that affects the development of the face and skull. The name describes its main features: mandibulofacial dysostosis refers to abnormal development of the jaw and facial bones, macroblepharon means unusually large eyelid openings, and macrostomia means an abnormally wide mouth. This syndrome belongs to a group of conditions sometimes called mandibulofacial dysostoses, which share problems with how the bones and soft tissues of the face form before birth. People with this condition typically have distinctive facial features that are present from birth. These may include underdeveloped cheekbones, a small or recessed lower jaw, a wide mouth, large eyelid openings that may expose more of the eye than usual, and sometimes ear abnormalities. Some individuals may also experience hearing difficulties and dental problems due to the abnormal jaw development. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing individual symptoms and may involve surgery to correct facial abnormalities, dental care, hearing support, and eye protection. A team of specialists typically works together to address the various aspects of this condition. Early intervention and coordinated care can significantly improve quality of life and functional outcomes for affected individuals.
Key symptoms:
Underdeveloped cheekbonesSmall or recessed lower jawAbnormally wide mouthUnusually large eyelid openingsDownward-slanting eyesEar abnormalities or malformed earsHearing loss or hearing difficultiesDental problems or misaligned teethDifficulty closing the eyes completelyDry eyes due to increased eye exposureFeeding difficulties in infancySpeech difficulties
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mandibulofacial dysostosis-macroblepharon-macrostomia 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 Mandibulofacial dysostosis-macroblepharon-macrostomia 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
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 of this syndrome does my child have, and how severe are they?,Will my child need surgery, and if so, what procedures and at what ages?,Should we have genetic testing done, and what can it tell us about the cause and recurrence risk?,How should we monitor and protect my child's eyes and hearing over time?,Are there any breathing or airway concerns we should watch for?,What therapies (speech, feeding, etc.) should we start, and when?,Can you refer us to a multidisciplinary craniofacial team for coordinated care?
Common questions about Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
What is Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome?
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is an extremely rare genetic condition that affects the development of the face and skull. The name describes its main features: mandibulofacial dysostosis refers to abnormal development of the jaw and facial bones, macroblepharon means unusually large eyelid openings, and macrostomia means an abnormally wide mouth. This syndrome belongs to a group of conditions sometimes called mandibulofacial dysostoses, which share problems with how the bones and soft tissues of the face form before birth. People with this condition typically h
How is Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome inherited?
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome typically begin?
Typical onset of Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is neonatal. Age of onset can vary across affected individuals.