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Fetal carbamazepine syndrome

MedGen UID:
609479
Concept ID:
C0432370
Disease or Syndrome
Synonym: fetal carbamazepine syndrome
SNOMED CT: Fetal carbamazepine syndrome (254249002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018263
Orphanet: ORPHA370076

Definition

Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. <i>In utero</i> exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies. [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

Serafini A, Gerard E, Genton P, Crespel A, Gelisse P
CNS Drugs 2019 Mar;33(3):195-208. doi: 10.1007/s40263-018-00602-2. PMID: 30747367
Delgado-Escueta AV, Janz D
Neurology 1992 Apr;42(4 Suppl 5):149-60. PMID: 1574171
Sitland-Marken PA, Rickman LA, Wells BG, Mabie WC
J Clin Psychopharmacol 1989 Apr;9(2):78-87. PMID: 2656779

Recent clinical studies

Diagnosis

Akar M, Dilli D, Yilmaz Y, Erdeve O, Oguz S, Uras N, Dilmen U
Genet Couns 2012;23(1):19-24. PMID: 22611638

Therapy

Akar M, Dilli D, Yilmaz Y, Erdeve O, Oguz S, Uras N, Dilmen U
Genet Couns 2012;23(1):19-24. PMID: 22611638

Prognosis

Akar M, Dilli D, Yilmaz Y, Erdeve O, Oguz S, Uras N, Dilmen U
Genet Couns 2012;23(1):19-24. PMID: 22611638

Supplemental Content

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