Overview
Autosomal recessive primary microcephaly (MCPH), also known as microcephalia vera or primary hereditary microcephaly, is a rare genetic neurodevelopmental disorder characterized by a significantly reduced head circumference (at least 3 standard deviations below the mean for age and sex) that is present at birth. The condition results from impaired brain development during embryonic and fetal life, primarily affecting the cerebral cortex, which is markedly reduced in size. The brain, while structurally simplified with reduced volume, typically maintains a normal overall architecture without major structural malformations, though mild cortical gyral abnormalities (simplified gyral pattern) may be observed. The hallmark features of MCPH include congenital microcephaly with a sloping forehead, mild to moderate intellectual disability, and relatively preserved motor function. Affected individuals generally have non-progressive intellectual disability, with IQ typically ranging from 30 to 80. Speech and language development are often delayed. Seizures may occur in some patients but are not a universal feature. Height and weight are usually mildly reduced but proportionate, and neurological examination is otherwise largely normal. Some individuals may exhibit hyperactivity or attention difficulties. MCPH is genetically heterogeneous, with at least 30 genes (MCPH1 through MCPH30) identified to date, including well-characterized genes such as ASPM (the most commonly mutated gene worldwide), WDR62, CDK5RAP2, CENPJ, CEP152, and STIL. These genes encode proteins involved in centrosome function, mitotic spindle formation, and cell division of neural progenitor cells during brain development. Diagnosis is based on clinical findings, neuroimaging (MRI showing reduced brain volume), and molecular genetic testing. There is currently no curative treatment for MCPH. Management is supportive and multidisciplinary, including early intervention programs, speech therapy, occupational therapy, special education services, and seizure management when needed. Genetic counseling is recommended for affected families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
5 eventsNational University Hospital, Singapore — NA
King's College London
Riphah International University — NA
Hospital San Pedro de Logroño
University of California, San Diego — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive primary microcephaly.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal recessive primary microcephaly.
Community
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Start the conversation →Latest news about Autosomal recessive primary microcephaly
Disease timeline:
New recruiting trial: Do Endotypes Predict Response and Sequelae in OSA Patients
A new clinical trial is recruiting patients for Autosomal recessive primary microcephaly
New recruiting trial: CPAP vs MAD for OSA in Patients With Cognitive Impairment. A Randomized Clinical Trial
A new clinical trial is recruiting patients for Autosomal recessive primary microcephaly
New recruiting trial: Spanish Registry of Patients With Sleep Apnea and Daytime Sleepiness
A new clinical trial is recruiting patients for Autosomal recessive primary microcephaly
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Autosomal recessive primary microcephaly
What is Autosomal recessive primary microcephaly?
Autosomal recessive primary microcephaly (MCPH), also known as microcephalia vera or primary hereditary microcephaly, is a rare genetic neurodevelopmental disorder characterized by a significantly reduced head circumference (at least 3 standard deviations below the mean for age and sex) that is present at birth. The condition results from impaired brain development during embryonic and fetal life, primarily affecting the cerebral cortex, which is markedly reduced in size. The brain, while structurally simplified with reduced volume, typically maintains a normal overall architecture without maj
How is Autosomal recessive primary microcephaly inherited?
Autosomal recessive primary microcephaly follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive primary microcephaly typically begin?
Typical onset of Autosomal recessive primary microcephaly is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Autosomal recessive primary microcephaly?
18 specialists and care centers treating Autosomal recessive primary microcephaly are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.