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Autosomal recessive primary microcephaly

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Other Names:
Microcephalia vera; Microcephaly vera; True microcephaly; Microcephalia vera; Microcephaly vera; True microcephaly; MCPH See More
Categories:
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. MCPH causes mild to moderate intellectual disability, which does not worsen with age, and also mild delayed speech, motor, and language skills. Some people with MCPH have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. It normally does not affect any other major organ systems or cause other health problems. MCPH can result from changes (mutations) in the ASPM gene (half of the cases) and at least other ten genes which are involved in early brain development and brain size. It is inherited in an autosomal recessive pattern. There is no cure and treatment is supportive.[1][2]
Last updated: 11/9/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Global developmental delay 0001263
Gray matter heterotopia 0002282
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Sloping forehead
Inclined forehead
Receding forehead
[ more ] 		0000340
Thin upper lip vermilion
Thin upper lip
0000219
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
30%-79% of people have these symptoms
Abnormal cortical bone morphology 0003103
Agenesis of corpus callosum 0001274
Hyperreflexia
Increased reflexes
0001347
Hypoplasia of the frontal lobes
Underdeveloped frontal lobe
0007333
Pachygyria
Fewer and broader ridges in brain
0001302
Unilateral renal agenesis
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] 		0000122
Ventriculomegaly 0002119
Vesicoureteral reflux 0000076
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Last updated: 7/1/2020

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
MCPH and Seckel syndrome belong to a clinical continuum, as mutations of some genes (CENPJ, CEP152) result in either phenotype. The distinction between MCPH and Seckel relies on a historical distinction between microcephalic patients with normal stature and patients with reduced stature. Normal fundus examination is important to distinguish MCPH from the microcephaly-chorioretinopathy syndromes. MRI is crucial to distinguish MCPH from other disorders with congenital microcephaly, such as lissencephaly, Norman-Roberts type (see this term) or infectious embryofetopathies. Assessment of maternal serum phenylalaninemia is mandatory to exclude maternal phenylketonuria (see this term).
Visit the Orphanet disease page for more information.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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  • Me gustaría saber si la microcefalia primaria autosómica recesiva se puede heredar porque estoy planeando tener un bebe y mi cuñado tiene esta enfermedad. See answer


  1. Verloes A, Drunat S, Gressens P & Passemard s. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. GeneReviews. October 31, 2013; http://www.ncbi.nlm.nih.gov/books/NBK9587/. Accessed 11/9/2015.
  2. Autosomal recessive primary microcephaly. Genetic Home Reference. April, 2011; http://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly. Accessed 11/9/2015.