Living with Microcephaly 5, primary, autosomal recessive
An inherited condition that affects the brain, causing a small head size at birth, learning challenges, and delayed speech.
Understanding Microcephaly 5, primary, autosomal recessive
MCPH5 is part of a group of conditions called primary microcephaly. It is linked to intellectual disability and delayed speech. In some people it also causes short stature or mild seizures. The folds and ridges on the surface of the brain are less complex than average (simplified gyral pattern).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Intellectual disability
- Delayed speech and language development
- Delayed motor skills
- Short stature
- More active than typical (hyperactivity)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
This condition is caused by changes in the ASPM gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: aspm autosomal recessive primary microcephaly; autosomal recessive primary microcephaly caused by mutation in aspm; mcph5
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 Microcephaly 5, primary, autosomal recessive.
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