Living with Hypohidrotic X-linked ectodermal dysplasia
An X-linked genetic condition affecting hair, nails, teeth, and sweat glands.
Understanding Hypohidrotic X-linked ectodermal dysplasia
It is linked to the X chromosome. Changes in a protein called ectodysplasin A (EDA), which is important for a baby's development before birth, cause it. It shows in infants and children.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced sweating (hypohidrosis)
- Sparse hair and body hair
- Absent eyebrows
- Small teeth and late tooth eruption
- Flat nose
- Prominent forehead
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.
- 3Consider genetic testing
Changes in EDA 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
- 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 the EDA gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: anhidrotic ectodermal dysplasia x-linked; christ siemens touraine syndrome; christ-siemans-touraine syndrome; christ-siemens-touraine syndrome; cst - christ-siemens-touraine syndrome; cst syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasHypohidrotic X-linked ectodermal dysplasia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypohidrotic X-linked ectodermal dysplasia.
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