Autosomal recessive primary microcephaly
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Microcephalia vera; Microcephaly vera; True microcephaly;
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Gray matter heterotopia||0002282|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
Decreased body height
[ more ]
[ more ]
|Thin upper lip vermilion||
Thin upper lip
|Upslanted palpebral fissure||
Upward slanting of the opening between the eyelids
|30%-79% of people have these symptoms|
|Abnormal cortical bone morphology||0003103|
|Hypoplasia of the frontal lobes||
Underdeveloped frontal lobe
Fewer and broader ridges in brain
|Unilateral renal agenesis||
Absent kidney on one side
Missing one kidney
[ more ]
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.
- 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.
- Verloes A, Drunat S, Gressens P & Passemard s. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. GeneReviews. October 31, 2013; https://www.ncbi.nlm.nih.gov/books/NBK9587/. Accessed 11/9/2015.
- Autosomal recessive primary microcephaly. Genetic Home Reference. April, 2011; https://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly. Accessed 11/9/2015.