Living with Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
A rare genetic condition with lifelong total hair loss from birth, gum disease, seizures, and intellectual disability.
Understanding Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
People have permanent hair loss over the whole body (alopecia universalis) from birth, and gum disease (periodontitis, or pyorrhea). Hair loss and gum disease always occur together. Most people also have intellectual disability and psychomotor epilepsy. No other nail or skin differences have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Total loss of body hair (alopecia universalis)
- Gum disease (periodontitis)
- Seizures
- Mild intellectual disability
- Memory problems
- Tooth problems
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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 it is passed on in an autosomal dominant way, so a changed copy of a gene from one parent can be enough. It doesn't name a gene.
Also known as: alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome; alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality; shokeir syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alopecia-epilepsy-pyorrhea-intellectual disability syndrome.
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