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Fetal warfarin syndrome

MedGen UID:
75570
Concept ID:
C0265374
Disease or Syndrome
Synonyms: Congenital warfarin syndrome; Coumarin syndrome; DiSala syndrome; Fetal anticoagulant syndrome; Vitamin K-antagonist embryofetopathy; Warfarin embryopathy; Warfarin syndrome
SNOMED CT: Dysmorphism due to warfarin (38323006); Foetal warfarin syndrome (38323006); Fetal warfarin syndrome (38323006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016010
Orphanet: ORPHA1914

Definition

Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFetal warfarin syndrome

Professional guidelines

PubMed

Garcez JD, Rosa VE, Lopes AS, Accorsi TA, Fernandes JR, Pomerantzeff PM, Avila WS, Tarasoutchi F
Arq Bras Cardiol 2015 Oct;105(4):426-9. doi: 10.5935/abc.20150130. PMID: 26559990Free PMC Article

Recent clinical studies

Etiology

R Sousa A, Barreira R, Santos E
BMJ Case Rep 2018 Apr 7;2018 doi: 10.1136/bcr-2017-223159. PMID: 29627779Free PMC Article
Silveira DB, da Rosa EB, de Mattos VF, Goetze TB, Sleifer P, Santa Maria FD, Rosa RC, Rosa RF, Zen PR
Am J Med Genet A 2015 Jun;167(6):1294-9. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.36655. PMID: 25899236
Yurdakök M
Turk J Pediatr 2012 May-Jun;54(3):207-15. PMID: 23094528
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989
Sathienkijkanchai A, Wasant P
J Med Assoc Thai 2005 Nov;88 Suppl 8:S246-50. PMID: 16856447

Diagnosis

R Sousa A, Barreira R, Santos E
BMJ Case Rep 2018 Apr 7;2018 doi: 10.1136/bcr-2017-223159. PMID: 29627779Free PMC Article
Songmen S, Panta OB, Paudel SS, Ghimire RK
J Nepal Health Res Counc 2017 Jan;15(1):81-84. doi: 10.3126/jnhrc.v15i1.18026. PMID: 28714498
Starling LD, Sinha A, Boyd D, Furck A
BMJ Case Rep 2012 Nov 1;2012 doi: 10.1136/bcr-2012-007344. PMID: 23125300Free PMC Article
Kumar M, Bhasker SK, Singh R, Kohli N, Kumar R
BMJ Case Rep 2012 Mar 20;2012 doi: 10.1136/bcr.12.2011.5291. PMID: 22605711Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989

Therapy

Birbal R, Olaniyi O, Clarke P
Arch Dis Child Fetal Neonatal Ed 2023 May;108(3):293-294. Epub 2021 Dec 23 doi: 10.1136/archdischild-2021-323295. PMID: 34949636
R Sousa A, Barreira R, Santos E
BMJ Case Rep 2018 Apr 7;2018 doi: 10.1136/bcr-2017-223159. PMID: 29627779Free PMC Article
Starling LD, Sinha A, Boyd D, Furck A
BMJ Case Rep 2012 Nov 1;2012 doi: 10.1136/bcr-2012-007344. PMID: 23125300Free PMC Article
Yurdakök M
Turk J Pediatr 2012 May-Jun;54(3):207-15. PMID: 23094528
Hou JW
Chang Gung Med J 2004 Sep;27(9):691-5. PMID: 15605910

Prognosis

Silveira DB, da Rosa EB, de Mattos VF, Goetze TB, Sleifer P, Santa Maria FD, Rosa RC, Rosa RF, Zen PR
Am J Med Genet A 2015 Jun;167(6):1294-9. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.36655. PMID: 25899236
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. PMID: 18935989

Clinical prediction guides

Silveira DB, da Rosa EB, de Mattos VF, Goetze TB, Sleifer P, Santa Maria FD, Rosa RC, Rosa RF, Zen PR
Am J Med Genet A 2015 Jun;167(6):1294-9. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.36655. PMID: 25899236
Watzka M, Geisen C, Scheer M, Wieland R, Wiegering V, Dörner T, Laws HJ, Gümrük F, Hanalioglu S, Unal S, Albayrak D, Oldenburg J
Thromb Res 2014 Oct;134(4):856-65. Epub 2014 Jul 12 doi: 10.1016/j.thromres.2014.07.004. PMID: 25151188

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