Living with X-linked mandibulofacial dysostosis
An extremely rare X-linked condition with a small jaw, small head, ear and cheekbone differences, hearing loss, and learning difficulty.
Understanding X-linked mandibulofacial dysostosis
It also includes downslanting eye openings, a high palate, low-set protruding ears, short stature, hearing loss in both ears, and learning disability. Sometimes there are heart valve differences or undescended testes. Signs are present at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Underdeveloped cheekbones
- Small lower jaw (micrognathia)
- Hearing loss
- Short stature
- Prominent, backward-rotated ears
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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
- 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
GARD says changes in genes (variants) cause this condition and it follows X-linked inheritance. It doesn't name a gene.
Also known as: mandibulofacial dysostosis toriello type; mandibulofacial dysostosis, toriello type; mandibulofacial dysostosis, x-linked; mfd toriello type; x-linked branchial arch syndrome; x-linked mandibulofacial dysostosis with limb anomalies
Patient organizations
- FACES: The National Craniofacial AssociationX-linked mandibulofacial dysostosis · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked mandibulofacial dysostosis.
Explore research for X-linked mandibulofacial dysostosis
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- Recruiting studies from ClinicalTrials.gov
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