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microcephaly

abnormally small head; skull with capacity below 1350 mL. Etiology: - zika virus Epidemiology: - 1761 case in newborns including 19 fatalities in Brazil 2015 [4] - mosquito-borne Zika virus is being investigated [4] Pathology: 1) brain weight is markedly diminished 2) cerebral cortex is disproportionately small 3) gyral pattern is relatively well preserved 3) no major abnormality in cortical architecture Genetics: - associated with defect in ASPM (autosomal recessive) - associated with defects in MCPH1 gene - type 4 associated with defects in CEP152 [2] - type 4 associated with defects in CENPJ [3] - type 12 associated with defects in CDK6 Clinical manifestations: - head circumference measured 1-7 days after birth > 2 standard deviations below the mean is microcephaly; > 3 standard deviations below the mean is severe microcephaly - primary microcephaly is characterized by the absence of other syndromic features or neurological deficits Radiology: - neuroimaging, cranial ultrasound if severe microcephaly [5] - intracranial calcifications in Zika-affected infants

Specific

microcephaly Amish type (Amish lethal microcephaly)

General

sign/symptom

Database Correlations

OMIM correlations

References

  1. Stedman's Medical Dictionary, 26th ed. Williams & Wilkins.
  2. OMIM :accession 604321
  3. OMIM :accession 608393
  4. World Health Organization (WHO) Disease Outbreak News. Dec 14, 2015 Microcephaly - Brazil http://www.who.int/csr/don/15-december-2015-microcephaly-brazil/en/
  5. World Health Organization (WHO). Interim guidance. Feb.25 2016 Assessment of infants with microcephaly in the context of Zika virus. http://apps.who.int/iris/bitstream/10665/204475/1/WHO_ZIKV_MOC_16.3_eng.pdf?ua=1
  6. OMIM :accession 616080
  7. NINDS Microcephaly Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Microcephaly-Information-Page