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Microgastria-limb reduction defect syndrome(MLRD)

MedGen UID:
322532
Concept ID:
C1834929
Disease or Syndrome
Synonyms: Congenital microgastria and limb reduction defects; Microgastria limb reduction defect; Microgastria-limb reduction defects association
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007993
OMIM®: 156810
Orphanet: ORPHA2538

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrogastria-limb reduction defect syndrome
Follow this link to review classifications for Microgastria-limb reduction defect syndrome in Orphanet.

Recent clinical studies

Diagnosis

Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD
Am J Med Genet A 2014 Feb;164A(2):287-90. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36273. PMID: 24311538

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