Living with Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
A rare X-linked condition with dry skin and sparse hair, severe intellectual disability, and differences in the brain's structure.
Understanding Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Ectodermal changes include dry skin, reduced sweating, and sparse fair hair, eyebrows, and eyelashes. Brain scans can show an underdeveloped cerebellum, enlarged fluid spaces, a missing corpus callosum, or Dandy-Walker malformation. Other features include a large head, a high forehead, a high-arched or cleft palate, low muscle tone, and feeding difficulties. It begins during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Reduced ability to sweat
- Dry skin and fine, sparse hair
- Underdeveloped cerebellum or missing corpus callosum
- Larger than average head (macrocephaly)
- Feeding difficulties in infancy
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, 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
- Brain and nervous system specialists (neurologists); 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 X-linked.
Also known as: ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasia-intellectual disability-central nervous system malformation 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-intellectual disability-central nervous system malformation syndrome.
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