Orphanet: Diaphragmatic defect limb deficiency skull defect syndrome

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Diaphragmatic defect-limb deficiency-skull defect syndrome

Disease definition

Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.


Classification level: Disorder
  • Synonym(s):
    • Froster-Huch syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q87.8
  • OMIM: 601163
  • UMLS: C1832668
  • MeSH: -
  • GARD: 2397
  • MedDRA: -

Detailed information


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