Living with Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
A rare genetic condition from birth with distinct facial features, including wide eyelids and a wide mouth.
Understanding Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Features include very long eyelid openings (macroblepharon), eyelids that turn outward (ectropion), widely spaced eyes, and a wide mouth with a thin upper lip. Other features may include large soft spots on the skull, thick eyebrows, differences in the teeth, and a small blood vessel growth (capillary hemangioma). It is present in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Long eyelid openings (macroblepharon)
- Outward-turned eyelids (ectropion)
- Widely spaced eyes
- Wide mouth (macrostomia)
- Ears rotated backward
- Large soft spots on the skull (fontanelles)
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Eye disease specialists (ophthalmologists); 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 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 genes (also called variants) cause this condition. GARD does not name a specific gene.
Also known as: macroblepharon-ectropion-hypertelorism-macrostomia syndrome; macroblepharon, ectropion, hypertelorism, and macrostomia; mandibulofacial dysostosis with macroblepharon and macrostomia; verloes-lesenfants syndrome
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
You are more than your diagnosis
Perspectives from people navigating life with Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome.
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