It is characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation. [ncbi.nlm.nih.gov]

• Turkish

  We present here a consanguineous Turkish family clinically diagnosed with MCPH and without linkage to any of the known loci (MCPH1-MCPH7). [ncbi.nlm.nih.gov]

  […] the identifica-tion of five loci: MCPH1 on 8p23,5 MCPH2 on 19q13,6 MCPH3 on 9q34,7 MCPH4 on 15q15-q21,8 and MCPH5 on 1q31.9 10 MCPH1, 2, and 3 were mapped in northern Pakistani families, MCPH4 in a Moroccan family, and MCPH5 in northern Pakistani and Turkish [citeseerx.ist.psu.edu]

  Interestingly, none of our northern Pakistani families link to the MCPH4 locus, 10 which was identified in a Turkish population. [jmg.bmj.com]

  The c.215C T alteration was absent from 180 alleles of Turkish and 180 alleles of German control subjects. Sequencing genomic DNA of patient 2 detected a homozygous missense mutation c.223T C in exon 3 of the MCPH1 gene. [karger.com]

• Swelling

  Between E7.5 and E8.5. the knockout embryos are smaller, display pericardial swelling, midline neural tube defects, failure of neural tube closure and holoprosencephaly. Failure in left-right specification. [ncbi.nlm.nih.gov]

• Progressive Intellectual Disability 

  Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. [ncbi.nlm.nih.gov]

There is no cure and treatment is supportive. [1] [2] Last updated: 11/9/2015 [rarediseases.info.nih.gov]

TREATMENT OPTIONS There is no treatment for microcephaly that can return a child's head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. [bio116su12.pbworks.com]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Management and treatment There is no specific etiologic treatment. Physical and speech therapy may be beneficial. Seizures are usually stabilized with common anticonvulsants. Ritalin may reduce hyperactivity. [orpha.net]

Prognosis Vital prognosis depends on severity and related manifestations but is generally good. The documents contained in this web site are presented for information purposes only. [orpha.net]

Generally, it is used to verify the presence of a suspected chromosomal aberration, or as a supplement in the prognosis and treatment of certain malignancies, rather than to search for a genetic abnormality. 21,22 Reproductive specialists may use FISH [clinicaladvisor.com]

• Advances in neuroimaging and genetic testing have value for the diagnosis and prognosis of microcephaly. • The American Academy of Neurology and Child Neurology Society have published an evidence-based review with recommendations for the evaluation [medlink.com]

[…] head circumference more than three standard deviations below the mean for the age and sex. [6] There is no specific treatment that returns the head size to normal. [1] In general, life expectancy for individuals with microcephaly is reduced and the prognosis [en.wikipedia.org]

Recent discoveries of mammalian models for MCPH have open up horizons for researchers to add more knowledge regarding the etiology and pathophysiology of MCPH. [ncbi.nlm.nih.gov]

Management and treatment There is no specific etiologic treatment. Physical and speech therapy may be beneficial. Seizures are usually stabilized with common anticonvulsants. Ritalin may reduce hyperactivity. [orpha.net]

Moreover, the results of this study may shed light on mechanisms relevant to the etiology of many neurological and psychiatric disorders related to cortical function. [grantome.com]

Genetic and nongenetic microcephaly is classification according to etiology. Primary microcephaly is often used synonymously as congenital microcephaly, in which microcephaly is present at the time of birth. [medlink.com]

Summary Epidemiology Exact prevalence of non-syndromic microcephaly is not known. MCPH is more common in Asian and Middle Eastern populations than in Caucasians, in whom an annual incidence of 1/1,000,000 is reported. [orpha.net]

Relevant External Links for MCPH1 Genetic Association Database (GAD) MCPH1 Human Genome Epidemiology (HuGE) Navigator MCPH1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MCPH1 No data available for Genatlas for MCPH1 Gene Sex-dependent [genecards.org]

Overview In this updated article, the author includes new epidemiologic information on microcephaly, the epidemic of congenital Zika syndrome causing microcephaly, and studies on microcephaly. [medlink.com]

[…] microcephaly Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Recent discoveries of mammalian models for MCPH have open up horizons for researchers to add more knowledge regarding the etiology and pathophysiology of MCPH. [ncbi.nlm.nih.gov]

X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology [books.google.com]

Microcephaly is the only proven malformation, or congenital abnormality, found in the children of Hiroshima and Nagasaki. [26] Other relations [ edit ] Intracranial volume also affects this pathology, as it is related with the size of the brain. [27] Pathophysiology [en.wikipedia.org]

Centers for Disease Control and Prevention. . Published December 2016, Version 7.0. Accessed April 25, 2017. Abreu AL, Souza RP, Gimenes F, Consolaro ME. A review of methods for detect human Papillomavirus infection. Virol J. 2012;9:262. [clinicaladvisor.com]

The virus essentially acts like a 'sponge', preventing MSI1 from working correctly and altering the expression of many genes involved in neuronal development. [sciencedaily.com]

The principal focus of his research has been elucidation of the pathogenesis of the major forms of brain injury in the newborn, and prevention of this injury. [books.google.com]

Centers for Disease Control and Prevention. 2016-01-15. Archived from the original on 2016-01-18. Retrieved 2016-01-17. Beth Mole (2016-01-17). "CDC issues travel advisory for 14 countries with alarming viral outbreaks]". Ars Technica. Condé Nast. [en.wikipedia.org]

They concluded that MCPH1 has a role in maintaining inhibitory CDK1 phosphorylation, which prevents premature entry into mitosis. [ncbi.nlm.nih.gov]