Living with Ablepharon macrostomia syndrome
A rare genetic condition with absent eyelids, a very large mouth, and differences in the skin, hair, ears, and hands.
Understanding Ablepharon macrostomia syndrome
Other common features include differently shaped ears, fused fingers and toes, dry coarse skin, absent or sparse hair, genital differences, and developmental delay. It belongs to a group called ectodermal dysplasias, which affect the skin, hair, nails, sweat glands, or teeth. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent eyelids (ablepharon)
- Absent eyebrows and eyelashes
- Dry, wrinkled skin
- Global developmental delay
- Hearing impairment
- Genital differences
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 brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TWIST2 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
- Brain and nervous system specialists (neurologists); 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 the TWIST2 gene cause this condition. It is autosomal dominant, but most cases are sporadic, with no other cases in the family.
Also known as: ablepharon-macrostomia syndrome; ams
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 Ablepharon macrostomia syndrome.
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