Living with Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
A rare inherited condition that affects how skin, hair, nails, teeth, and sweat glands develop.
Understanding Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
People may sweat less than usual, which makes it harder for the body to cool off and can lead to high body temperature in hot weather. Hair is often thin, light, and slow-growing. Teeth may be missing or small and pointed, and may come in late. Most people have typical growth and intellectual ability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Less sweating than usual (hypohidrosis)
- Fine, thin hair or hair loss
- Missing or small, differently shaped teeth
- Early loss of baby teeth
- Dry skin
- Nail 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, gum, teeth and mouth 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); Gum, teeth and mouth specialists (odontologists); 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: ar-hed; autosomal recessive anhidrotic ectodermal dysplasia; autosomal recessive hypohidrotic ectodermal dysplasia; hypohidrotic autosomal recessive ectodermal dysplasia; hypohidrotic ectodermal dysplasia, autosomal recessive
Patient organizations
- National Foundation for Ectodermal DysplasiasAutosomal recessive hypohidrotic ectodermal dysplasia syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive hypohidrotic ectodermal dysplasia syndrome.
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