Living with Autosomal recessive primary microcephaly
An inherited condition in which a baby is born with a very small head and brain.
Understanding Autosomal recessive primary microcephaly
The head and brain keep growing but stay much smaller than usual. Intellectual disability is typically mild to moderate and does not get worse with age. Most people have delayed speech, and motor skills can be mildly delayed. Some have mild seizures, attention or behavior problems, or short height. It does not usually affect other organs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormally small head (microcephaly)
- Global developmental delay
- Intellectual disability
- Short stature
- Sloping forehead
- Brain structure differences seen on scans
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, eye disease 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); Eye disease specialists (ophthalmologists); 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 recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: mcph; microcephalia vera; microcephaly vera; microcephaly, primary autosomal recessive; microcephaly, primary, autosomal recessive
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 recessive primary microcephaly.
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