Overview
Mandibulofacial dysostosis-microcephaly syndrome (also known as MFDM or Guion-Almeida type mandibulofacial dysostosis) is a rare genetic condition that affects the development of the face, skull, and other parts of the body. The name describes two of its main features: 'mandibulofacial dysostosis' means the bones of the jaw and face did not form properly, and 'microcephaly' means the head is smaller than usual because the brain did not grow to a typical size. People with this condition are usually identified at birth or even before birth. The most noticeable features include a small head, underdeveloped cheekbones and jaw, small or absent ears, and problems with hearing. Many individuals also have intellectual disability and developmental delays, meaning they may take longer to reach milestones like talking or learning. Some people have cleft palate, which is a gap in the roof of the mouth, and eye problems. There is currently no cure for MFDM. Treatment focuses on managing individual symptoms. This can include hearing aids or surgery for ear problems, speech therapy, special education support, surgery to correct facial differences, and regular monitoring of brain development. A team of different specialists usually works together to support each person and their family.
Key symptoms:
Smaller than normal head size (microcephaly)Underdeveloped or missing cheekbonesSmall or underdeveloped jawSmall, malformed, or absent outer earsHearing loss, often significantCleft palate (gap in the roof of the mouth)Intellectual disability or learning difficultiesDevelopmental delays (talking, learning, motor skills)Eye problems, including drooping eyelids or small eyesShort statureFeeding difficulties in infancyBreathing difficulties due to small airwayAbnormalities of the thumbs or hands in some cases
Clinical phenotype terms (30)— hover any for plain English
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-microcephaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mandibulofacial dysostosis-microcephaly 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-microcephaly 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.Which specialists should be part of my child's care team, and how often should we see each one?,What type of hearing loss does my child have, and what is the best hearing device or treatment for them?,What early intervention therapies are most important to start right away?,Are there any surgeries recommended, and what is the best timing for them?,What level of intellectual disability might my child have, and what educational support will they need?,Should other family members be tested for the EFTUD2 gene change?,Are there any research studies or patient registries we should consider joining?
Common questions about Mandibulofacial dysostosis-microcephaly syndrome
What is Mandibulofacial dysostosis-microcephaly syndrome?
Mandibulofacial dysostosis-microcephaly syndrome (also known as MFDM or Guion-Almeida type mandibulofacial dysostosis) is a rare genetic condition that affects the development of the face, skull, and other parts of the body. The name describes two of its main features: 'mandibulofacial dysostosis' means the bones of the jaw and face did not form properly, and 'microcephaly' means the head is smaller than usual because the brain did not grow to a typical size. People with this condition are usually identified at birth or even before birth. The most noticeable features include a small head, und
How is Mandibulofacial dysostosis-microcephaly syndrome inherited?
Mandibulofacial dysostosis-microcephaly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mandibulofacial dysostosis-microcephaly syndrome typically begin?
Typical onset of Mandibulofacial dysostosis-microcephaly syndrome is neonatal. Age of onset can vary across affected individuals.