Living with Mandibulofacial dysostosis with alopecia
A rare genetic condition from birth with jaw and cheek differences, hair loss on the scalp, and hearing loss.
Understanding Mandibulofacial dysostosis with alopecia
People have hair loss on the scalp and sparse eyebrows and eyelashes. Face differences include small cheekbones and lower jaw, cleft palate, and ear and eyelid differences. Some people have limited jaw movement, a tongue that falls back, upper airway blockage, and hearing loss from the middle ear. It is present in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft palate
- Hearing loss from the middle ear (conductive)
- Hair loss on the scalp (alopecia)
- Sparse eyelashes
- Small, cupped ears
- Narrow ear canal
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in EDNRA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the EDNRA gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: mfda; mfda - mandibulofacial dysostosis with alopecia
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mandibulofacial dysostosis with alopecia.
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