Living with Mandibulofacial dysostosis-microcephaly syndrome
A genetic condition from birth that affects the head and face, hearing, and learning.
Understanding Mandibulofacial dysostosis-microcephaly syndrome
Babies often have a small head that grows more slowly than the body. People have developmental delay and intellectual disability from mild to severe, and speech problems are common. Face and ear differences often lead to hearing loss. Some have a cleft palate, blocked nasal passages, heart problems, thumb differences, or a blocked esophagus.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small lower jaw (micrognathia)
- Underdeveloped cheekbones and upper jaw
- Small, unusually shaped ears
- Cleft palate
- Intellectual disability and delayed speech
- Feeding difficulties
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, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in EFTUD2 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); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- 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 FACES: The National Craniofacial Association 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 EFTUD2 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: mandibulofacial dysostosis with microcephaly; mandibulofacial dysostosis, guion-almeida type; mfdga; mfdm syndrome
Patient organizations
- FACES: The National Craniofacial AssociationMandibulofacial dysostosis-microcephaly syndrome · United States
- The MFDM FoundationMandibulofacial dysostosis-microcephaly syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Mandibulofacial dysostosis-microcephaly syndrome.
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