Living with Ectodermal dysplasia-blindness syndrome
A very rare condition present from birth with intellectual disability, severe vision loss from eye differences, short height, and sparse hair.
Understanding Ectodermal dysplasia-blindness syndrome
People have intellectual disability and severe vision loss due to small eyes and corneas. They also have short height, sparse hair, tooth differences, and distinct facial features such as a narrow nasal bridge and prominent ears. GARD notes there have been no new descriptions in the medical literature since 1992.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe vision loss or blindness
- Small eyes and small corneas
- Intellectual disability
- Short height
- Sparse hair
- Tooth 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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- 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 a person's genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasia-blindness syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ectodermal dysplasia-blindness syndrome.
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