Overview
Mandibulofacial dysostosis with alopecia (MFDA) is a very rare genetic condition that affects the development of the face and skull, and also causes hair loss. The name describes the two main features: 'mandibulofacial dysostosis' refers to abnormal development of the jaw and facial bones, and 'alopecia' means hair loss. This condition is sometimes referred to by its gene name, EOGT-related mandibulofacial dysostosis, though the exact naming can vary in medical literature. People with MFDA are typically born with differences in the shape of their face, including underdevelopment of the cheekbones and lower jaw, which can affect how the face looks and how the mouth and teeth work. The outer ears may also be small or unusually shaped, and hearing loss is common. Hair loss can affect the scalp and sometimes the eyebrows or eyelashes. Some individuals may also have differences in their eyelids or eyes. There is currently no cure for MFDA. Treatment focuses on managing individual symptoms. This may include hearing aids or surgery for ear and hearing problems, dental or jaw surgery, and support for any developmental or learning needs. A team of specialists is usually needed to provide the best care. Because this condition is so rare, treatment plans are highly personalized and based on each person's specific symptoms.
Also known as:
Key symptoms:
Underdeveloped or small lower jaw (micrognathia)Underdeveloped cheekbonesSmall or abnormally shaped outer ears (microtia)Hearing loss, often from birthHair loss on the scalp (alopecia)Sparse or absent eyebrows and eyelashesDrooping eyelids (ptosis)Widely spaced or downward-slanting eyesCleft palate or high-arched palateDental problems or missing teethNarrow or blocked ear canalsPossible mild intellectual disability or learning difficulties in some cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Mandibulofacial dysostosis with alopecia.
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Specialists
View all specialists →No specialists are currently listed for Mandibulofacial dysostosis with alopecia.
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 with alopecia.
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 hearing support options are best for my child's level of hearing loss, and when should we start?,Are there surgical options to improve my child's jaw, ear, or facial features, and what is the best timing for these?,What support is available to help my child with speech, language, and learning at school?,Should other family members be tested for the EOGT gene change, and what does this mean for future pregnancies?,Are there any clinical trials or research studies for MFDA that we could consider joining?,Where can we find support groups or connect with other families affected by this condition?
Common questions about Mandibulofacial dysostosis with alopecia
What is Mandibulofacial dysostosis with alopecia?
Mandibulofacial dysostosis with alopecia (MFDA) is a very rare genetic condition that affects the development of the face and skull, and also causes hair loss. The name describes the two main features: 'mandibulofacial dysostosis' refers to abnormal development of the jaw and facial bones, and 'alopecia' means hair loss. This condition is sometimes referred to by its gene name, EOGT-related mandibulofacial dysostosis, though the exact naming can vary in medical literature. People with MFDA are typically born with differences in the shape of their face, including underdevelopment of the cheekb
How is Mandibulofacial dysostosis with alopecia inherited?
Mandibulofacial dysostosis with alopecia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mandibulofacial dysostosis with alopecia typically begin?
Typical onset of Mandibulofacial dysostosis with alopecia is neonatal. Age of onset can vary across affected individuals.