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Microcephaly
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===Congenital=== {{More citations needed section|date=February 2016}} * Isolated *# Familial ([[autosomal recessive]]) microcephaly<ref name="Health Encyclopedia">{{Cite encyclopedia|url=https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02610|title=Microcephaly in Children |encyclopedia=Health Encyclopedia |publisher=University of Rochester Medical Center|access-date=2019-07-30}}</ref> *# [[Autosomal dominant]] microcephaly<ref>{{Cite web|url=https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant|title=Microcephaly autosomal dominant|publisher=Genetic and Rare Diseases Information Center|access-date=2019-07-30|archive-date=2020-09-21|archive-url=https://web.archive.org/web/20200921191508/https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant|url-status=dead}}</ref><ref>{{OMIM|617520|Microcephaly 18, Primary, Autosomal Dominant; MCPH18}}</ref> *# [[X-linked]] microcephaly<ref name="Health Encyclopedia" /> *# Chromosomal (balanced rearrangements and ring chromosome) * Syndromes ** Chromosomal **# [[Poland syndrome]]<ref>{{Cite web|url=https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome|title=Poland syndrome |publisher=Genetic and Rare Diseases Information Center |access-date=2019-07-30}}</ref> **# [[Down syndrome]]<ref>{{Cite web|url=https://www.who.int/news-room/fact-sheets/detail/microcephaly|title=Microcephaly|publisher=World Health Organization|access-date=2019-07-30}}</ref> **# [[Edward syndrome]]<ref>{{Cite web|title=Trisomy 18: MedlinePlus Medical Encyclopedia|url=https://medlineplus.gov/ency/article/001661.htm|access-date=2020-10-29|website=medlineplus.gov|language=en}}</ref> **# [[Patau syndrome]]<ref>{{Cite web|title=Trisomy 13 {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/7341/trisomy-13|access-date=2020-10-29|website=rarediseases.info.nih.gov}}</ref> **# Unbalanced rearrangements ** Contiguous gene deletion **# 4p deletion ([[Wolf–Hirschhorn syndrome]]) **# 5p deletion ([[Cri-du-chat]]) **# 7q11.23 deletion ([[Williams syndrome]]) **# 22q11 deletion ([[DiGeorge syndrome]]) * Single gene defects *# [[Smith–Lemli–Opitz syndrome]] *# [[Seckel syndrome]] *# [[Cornelia de Lange syndrome]] *# [[Dihydropteridine reductase deficiency]] - in up to 25% of patients<ref name="pmid32456656">{{cite journal | vauthors = Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O | title = Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies | journal = Orphanet Journal of Rare Diseases | volume = 15 | issue = 1 | pages = 126 | date = May 2020 | pmid = 32456656 | pmc = 7251883 | doi = 10.1186/s13023-020-01379-8 | url = | doi-access = free }}</ref> *# [[5,10-methenyltetrahydrofolate synthetase deficiency]] *# [[Holoprosencephaly]] *# [[Primary microcephaly]]<ref>{{cite journal|last1=Szczepanski|first1=Sandra|last2=Hussain|first2=MuhammadSajid|last3=Sur|first3=Ilknur|last4=Altmüller|first4=Janine|last5=Thiele|first5=Holger|last6=Abdullah|first6=Uzma|last7=Waseem|first7=SyedaSeema|last8=Moawia|first8=Abubakar|last9=Nürnberg|first9=Gudrun|last10=Noegel|first10=Angelika Anna|last11=Baig|first11=Shahid Mahmood|last12=Nürnberg|first12=Peter|title=A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family|journal=Human Genetics|date=30 November 2015|volume=135|issue=2|pages=157–170|doi=10.1007/s00439-015-1619-5|pmid=26621532|s2cid=2295608}}</ref> *# [[Wiedemann-Steiner syndrome]] * Acquired ** Disruptive injuries **# [[Ischemic stroke]]<ref name="UpToDate">{{Cite web|url=https://www.uptodate.com/contents/microcephaly-in-infants-and-children-etiology-and-evaluation|title=Microcephaly in infants and children: Etiology and evaluation|work=[[UpToDate]]|access-date=2019-08-02}}</ref> **# [[Hemorrhagic stroke]]<ref name="UpToDate" /> **# Death of a monozygotic twin ** [[Vertically transmitted infection]]s **# [[Congenital cytomegalovirus infection]]<ref name="Mayo Clinic">{{Cite web|url=https://www.mayoclinic.org/diseases-conditions/microcephaly/symptoms-causes/syc-20375051|title=Microcephaly - Symptoms and causes|website=[[Mayo Clinic]]|access-date=2019-07-30}}</ref> **# [[Toxoplasmosis]]<ref name="Mayo Clinic" /> **# [[Congenital rubella syndrome]]<ref name="Mayo Clinic" /> **# [[Congenital varicella syndrome]]<ref name="Mayo Clinic" /> **# [[Zika virus]] (see [[Zika fever#Microcephaly]])<ref>{{cite journal|title=Interim Guidelines for Pregnant Women During a Zika Virus Outbreak — United States, 2016|date=January 22, 2016|volume=65|issue=2|pages=30–33|journal=Morbidity and Mortality Weekly Report|author1=Emily E. Petersen|author2=Erin Staples|author3=Dana Meaney-Delman|author4=Marc Fischer|author5=Sascha R. Ellington|author6=William M. Callaghan|author7=Denise J. Jamieson|author7-link=Denise J. Jamieson|doi=10.15585/mmwr.mm6502e1|pmid=26796813|doi-access=free}}</ref> ** Drugs **# [[Fetal hydantoin syndrome]]<ref name="Mayo Clinic" /> **# [[Fetal alcohol syndrome]]<ref name="Mayo Clinic" /> * Other *# [[Radiation]] exposure to mother *# Maternal [[malnutrition]]<ref name="Mayo Clinic" /> *# Maternal [[phenylketonuria]]<ref name="Mayo Clinic" /> *# Poorly controlled [[gestational diabetes]] *# [[Hyperthermia]] *# [[Maternal hypothyroidism]] *# [[Placental insufficiency]] *# [[Craniosynostosis]]<ref name="Mayo Clinic" />
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