Living with Autosomal dominant primary microcephaly
A genetic condition in which the head and brain are smaller than usual.
Understanding Autosomal dominant primary microcephaly
Signs may be seen during pregnancy, at birth, or in infancy. Besides a small head size, other features can include short height and fewer teeth than usual.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormally small head (microcephaly)
- Short stature
- Fewer teeth than usual (tooth agenesis)
- Eyes that turn inward, alternating (esotropia)
- Eye movements that shake side to side (less common)
- Prominent ears (less common)
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 and genetic 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)
- 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 rare disease patient organizations for support
- 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 genes (also called variants) cause this condition. It is autosomal dominant, so a change in one copy of a gene can cause it.
Also known as: microcephaly (disease), autosomal dominant; microcephaly with autosomal dominant inheritance
Patient organizations
Rare-disease groups that can help
- 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 Autosomal dominant primary microcephaly.
Explore research for Autosomal dominant primary microcephaly
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