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Microgastria-limb reduction defect syndrome

Disease definition

Microgastria-limb reduction defect syndrome is a rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.


  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 156810
  • UMLS: C1834929
  • MeSH: C537554
  • GARD: 3640
  • MedDRA: -

Additional information

Specialised Social Services

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