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fetal alcohol syndrome

MedGen UID:
8820
Concept ID:
C0015923
Disease or Syndrome
Synonyms: Fetal Alcohol Syndrome; Syndrome, Fetal Alcohol
SNOMED CT: Fetal alcohol syndrome (205788004); FAS - Fetal alcohol syndrome (205788004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016011
Orphanet: ORPHA1915

Definition

Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVfetal alcohol syndrome
Follow this link to review classifications for fetal alcohol syndrome in Orphanet.

Professional guidelines

PubMed

Wilhoit LF, Scott DA, Simecka BA
Community Ment Health J 2017 Aug;53(6):711-718. Epub 2017 Feb 6 doi: 10.1007/s10597-017-0104-0. PMID: 28168434
Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA
Pediatrics 2016 Aug;138(2) Epub 2016 Jul 27 doi: 10.1542/peds.2015-4256. PMID: 27464676Free PMC Article
Gupta KK, Gupta VK, Shirasaka T
Alcohol Clin Exp Res 2016 Aug;40(8):1594-602. Epub 2016 Jul 4 doi: 10.1111/acer.13135. PMID: 27375266

Recent clinical studies

Etiology

Oei JL
Addiction 2020 Nov;115(11):2148-2163. Epub 2020 Jun 3 doi: 10.1111/add.15036. PMID: 32149441
Goldberg EM, Aliani M
Biochem Cell Biol 2018 Apr;96(2):198-203. Epub 2017 Jul 7 doi: 10.1139/bcb-2017-0080. PMID: 28686845
Denny L, Coles S, Blitz R
Am Fam Physician 2017 Oct 15;96(8):515-522. PMID: 29094891
Gupta KK, Gupta VK, Shirasaka T
Alcohol Clin Exp Res 2016 Aug;40(8):1594-602. Epub 2016 Jul 4 doi: 10.1111/acer.13135. PMID: 27375266
Duerbeck NB
Compr Ther 1997 Mar;23(3):179-83. PMID: 9113456

Diagnosis

Oei JL
Addiction 2020 Nov;115(11):2148-2163. Epub 2020 Jun 3 doi: 10.1111/add.15036. PMID: 32149441
Mattson SN, Bernes GA, Doyle LR
Alcohol Clin Exp Res 2019 Jun;43(6):1046-1062. Epub 2019 May 2 doi: 10.1111/acer.14040. PMID: 30964197Free PMC Article
Denny L, Coles S, Blitz R
Am Fam Physician 2017 Oct 15;96(8):515-522. PMID: 29094891
Wilhoit LF, Scott DA, Simecka BA
Community Ment Health J 2017 Aug;53(6):711-718. Epub 2017 Feb 6 doi: 10.1007/s10597-017-0104-0. PMID: 28168434
Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA
Pediatrics 2016 Aug;138(2) Epub 2016 Jul 27 doi: 10.1542/peds.2015-4256. PMID: 27464676Free PMC Article

Therapy

Nutt D, Hayes A, Fonville L, Zafar R, Palmer EOC, Paterson L, Lingford-Hughes A
Nutrients 2021 Nov 4;13(11) doi: 10.3390/nu13113938. PMID: 34836193Free PMC Article
Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA
Pediatrics 2016 Aug;138(2) Epub 2016 Jul 27 doi: 10.1542/peds.2015-4256. PMID: 27464676Free PMC Article
Gupta KK, Gupta VK, Shirasaka T
Alcohol Clin Exp Res 2016 Aug;40(8):1594-602. Epub 2016 Jul 4 doi: 10.1111/acer.13135. PMID: 27375266
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Schuckit MA
Lancet 2009 Feb 7;373(9662):492-501. Epub 2009 Jan 23 doi: 10.1016/S0140-6736(09)60009-X. PMID: 19168210

Prognosis

Pfefferbaum A, Sullivan EV, Pohl KM, Bischoff-Grethe A, Stoner SA, Moore EM, Riley EP
JAMA Netw Open 2023 Nov 1;6(11):e2343618. doi: 10.1001/jamanetworkopen.2023.43618. PMID: 37976065Free PMC Article
Popova S, Lange S, Probst C, Gmel G, Rehm J
Lancet Glob Health 2017 Mar;5(3):e290-e299. Epub 2017 Jan 13 doi: 10.1016/S2214-109X(17)30021-9. PMID: 28089487
Toga AW, Thompson PM, Sowell ER
Trends Neurosci 2006 Mar;29(3):148-59. Epub 2006 Feb 10 doi: 10.1016/j.tins.2006.01.007. PMID: 16472876Free PMC Article
Crabb DW, Matsumoto M, Chang D, You M
Proc Nutr Soc 2004 Feb;63(1):49-63. doi: 10.1079/pns2003327. PMID: 15099407
Jones KL
Pediatr Rev 1986 Oct;8(4):122-6. doi: 10.1542/pir.8-4-122. PMID: 3332343

Clinical prediction guides

Khachadourian V, Mahjani B, Sandin S, Kolevzon A, Buxbaum JD, Reichenberg A, Janecka M
Transl Psychiatry 2023 Feb 25;13(1):71. doi: 10.1038/s41398-023-02374-w. PMID: 36841830Free PMC Article
Popova S, Lange S, Probst C, Gmel G, Rehm J
Lancet Glob Health 2017 Mar;5(3):e290-e299. Epub 2017 Jan 13 doi: 10.1016/S2214-109X(17)30021-9. PMID: 28089487
Hoyme HE, Kalberg WO, Elliott AJ, Blankenship J, Buckley D, Marais AS, Manning MA, Robinson LK, Adam MP, Abdul-Rahman O, Jewett T, Coles CD, Chambers C, Jones KL, Adnams CM, Shah PE, Riley EP, Charness ME, Warren KR, May PA
Pediatrics 2016 Aug;138(2) Epub 2016 Jul 27 doi: 10.1542/peds.2015-4256. PMID: 27464676Free PMC Article
Toga AW, Thompson PM, Sowell ER
Trends Neurosci 2006 Mar;29(3):148-59. Epub 2006 Feb 10 doi: 10.1016/j.tins.2006.01.007. PMID: 16472876Free PMC Article
Crabb DW, Matsumoto M, Chang D, You M
Proc Nutr Soc 2004 Feb;63(1):49-63. doi: 10.1079/pns2003327. PMID: 15099407

Recent systematic reviews

Tsang TW, Finlay-Jones A, Perry K, Grigg JR, Popova S, Cheung MMY, Bower C, Tam P, Jamieson RV, Elliott EJ
Ophthalmic Epidemiol 2023 Aug;30(4):340-351. Epub 2022 Sep 14 doi: 10.1080/09286586.2022.2123004. PMID: 36102703
Lim YH, Watkins RE, Jones H, Kippin NR, Finlay-Jones A
Res Dev Disabil 2022 Mar;122:104168. Epub 2022 Jan 4 doi: 10.1016/j.ridd.2021.104168. PMID: 34996007
Popova S, Lange S, Probst C, Gmel G, Rehm J
Lancet Glob Health 2017 Mar;5(3):e290-e299. Epub 2017 Jan 13 doi: 10.1016/S2214-109X(17)30021-9. PMID: 28089487
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Popova S, Lange S, Shield K, Mihic A, Chudley AE, Mukherjee RAS, Bekmuradov D, Rehm J
Lancet 2016 Mar 5;387(10022):978-987. Epub 2016 Jan 6 doi: 10.1016/S0140-6736(15)01345-8. PMID: 26777270

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