Living with Alopecia - contractures - dwarfism - intellectual disability syndrome
A rare ectodermal dysplasia with short height, hair loss, stiff joints, fused bones, and intellectual disability.
Understanding Alopecia - contractures - dwarfism - intellectual disability syndrome
It involves short height starting before birth, hair loss, dry scaly skin (ichthyosis), light sensitivity, seizures, scoliosis, and multiple stiff joints. Bones can be fused, especially in the elbows, wrist, hands, and spine. People also have intellectual disability and distinct facial features. It starts during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Nearsightedness (myopia)
- Differences in the elbows
- Differences in toenails
- Tooth enamel differences
- Differences in ear shape
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 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: acd-intellectual disability syndrome; alopecia-contractures-dwarfism-intellectual disability syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alopecia - contractures - dwarfism - intellectual disability syndrome.
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