Presentation
Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. This presentation focuses on primary microcephaly. [bio116su12.pbworks.com]
This variant is neither present in any single-nucleotide polymorphism or exome sequencing databases nor in a Pakistani control cohort. [ncbi.nlm.nih.gov]
Seizures may be present (10%). Delay in early motor milestones and speech delay are common. Most patients have hyperactive behavior. Etiology Ten subtypes based on the 11 genes have been differentiated. [orpha.net]
Case report The case of a 2.4-year-old girl with developmental delay and small head circumference is presented. History didn\\\'t reveal any other family member with a similar phenotype (Figure-1). [jpma.org.pk]
Entire Body System
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Poor Feeding
The following are the most common symptoms of microcephaly (Microcephaly, 2012 ) : appearance of the baby's head is very small high-pitched cry poor feeding seizures increased movement of the arms and legs (spasticity) developmental delays mental retardation [bio116su12.pbworks.com]
Musculoskeletal
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Normal Stature
The distinction between MCPH and Seckel relies on a historical distinction between microcephalic patients with normal stature and patients with reduced stature. [orpha.net]
Neurologic
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Excitement
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Treatment
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]
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]
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]
Research is carried out in the home Department of Medical Genetics located on level 6 of the Addenbrooke’s Treatment Centre (Professor Eamonn Maher, Dr Serena Nik-Zainal, Dr Richard Sandford, Dr Leonardo Bottolo and Dr Marc Tischkowitz groups) and also [medgen.medschl.cam.ac.uk]
Prognosis
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]
The prognosis is variable, with some patients dying in infancy or early childhood. This disorder has an onset in-utero and can be observed by week 32 of pregnancy. [cags.org.ae]
[…] 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]
Etiology
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]
While there is currently no specific etiological treatment, patients may benefit from physical therapy as well as speech and occupational therapy. Genetic counselling may be beneficial to patients’ families. [cags.org.ae]
Actually in most of the cases, genetic mechanisms including cytogenetic abnormalities, single-gene disorders, and undetermined etiology syndromes are the major causes of the disease. 3 Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous [jpma.org.pk]
A few previous reviews based on the genetics and etiology of microcephaly have been published, 1, 22, 23 and the presence of a simplified gyral pattern in association with microcephaly has been discussed by many authors. 21, 24 However, to our knowledge [ajnr.org]
Epidemiology
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]
Carter gives the traditional account of the relevant genetic epidemiology in a section entitled “Frequency and dangers of recessive mutant genes” ( 5 ). [atm.amegroups.com]
2010, Primary microcephaly in Hungary: epidemiology and clinical features., Acta. Paediatr., 99, 690-693. [4] Darvish, H., Esmaeeli-Nieh, S., Monajemi, G. B., Mohseni, M., Ghasemi-Firouzabadi, S., Abedini, S. [article.sapub.org]
Pathophysiology
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]
Prevention
[…] i 510 Phosphoserine 1 Modified residue i 615 Phosphoserine 1 Modified residue i 657 Phosphoserine 1 Post-translational modification i Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during S phase, leading to its degradation and preventing [uniprot.org]
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]