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Microphthalmia microtia fetal akinesia

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Thomas Jewett Raines syndrome
SNOMED CT: Microphthalmia, microtia, fetal akinesia syndrome (1230344000); Thomas Jewett Raines syndrome (1230344000)
Monarch Initiative: MONDO:0043143
Orphanet: ORPHA2547


A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrophthalmia microtia fetal akinesia

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