Living with Alopecia - intellectual disability syndrome
An extremely rare genetic condition with total or partial hair loss and intellectual disability.
Understanding Alopecia - intellectual disability syndrome
GARD says it has been described in fewer than 20 families. It can come with other differences, such as seizures, hearing loss from nerve damage, delayed development, and stiff muscles. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hair loss (alopecia)
- Missing or thin eyebrows
- Small head size (microcephaly)
- Hearing loss
- Sensitivity of the eyes to light (photophobia)
- Slow growth
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 lists autosomal recessive inheritance, so a child inherits a changed copy of a gene from each parent. It doesn't name a gene.
Also known as: alopecia and intellectual disability syndrome; alopecia-intellectual disability syndrome; perniola krajewska carnevale syndrome; perniola-krajewska-carnevale 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 - intellectual disability syndrome.
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