Living with EEM syndrome
A rare inherited condition with missing teeth, sparse hair, split hands or feet, and a retinal problem in the center of the eye.
Understanding EEM syndrome
People have thin scalp hair, eyebrows, and eyelashes, and partly missing teeth. They have ectrodactyly and macular dystrophy, a problem in the center of the retina that can affect vision. Other limb differences include extra, joined, or bent fingers. The hands are often more affected than the feet. It is present from the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse scalp hair, body hair, and missing eyebrows
- Missing or small teeth
- Split hand or foot (ectrodactyly)
- Macular dystrophy (central retina damage)
- Vision problems
- Joined fingers (syndactyly)
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, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CDH3 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
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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
GARD says changes in the CDH3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome; ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome; eem (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome; eems
Patient organizations
- National Foundation for Ectodermal DysplasiasEEM syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with EEM syndrome.
Explore research for EEM syndrome
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