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Phenobarbital embryopathy

Disease definition

Phenobarbital embryopathy is a teratologic disorder associated with intrauterine exposure of phenorbarbital, during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip (see these terms), hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.

ORPHA:1919

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q86.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 4315
  • MedDRA: -

Additional information

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