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Lethal omphalocele-cleft palate syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.

ORPHA:2736

Classification level: Disorder
  • Synonym(s):
    • Czeizel syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 258320
  • UMLS: C1850317
  • MeSH: C537747
  • GARD: 4079
  • MedDRA: -

  A summary on this disease is available in Italiano (2006) Español (2020) Français (2020) Nederlands (2020) Deutsch (2005)

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.