microgastria-limb reduction defect syndrome
MeSH: C537554ORPHA: 2538
Overview
This syndrome is characterised by the association of microgastria with a limb reduction defect
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with microgastria-limb reduction defect syndrome, sourced from HPO and Orphanet clinical annotations.
Failure to thriveGrowth delayAbnormality of the spleenGastroesophageal refluxHiatus herniaAbnormal morphology of the radiusShort thumbFeeding difficultiesEsophagitisMicrogastriaMulticystic kidney dysplasiaRenal dysplasiaAbnormal finger morphologyPlagiocephalyFrontal bossingAbnormal metacarpal morphologyCongenital muscular torticollisProminent foreheadHorseshoe kidneyRenal agenesisRectovaginal fistulaAnophthalmiaMicrophthalmiaAgenesis of corpus callosumAbsent septum pellucidumAtrial septal defectTruncus arteriosusAnal atresiaEsophageal atresiaAbnormal lung lobationArrhinencephalyHepatomegalyAbnormal cortical gyrationIntestinal malrotationTracheoesophageal fistulaElbow dislocationAbsent handCrossed fused renal ectopiaPerineal fistulaAplastic clavicleRenal hypoplasia/aplasiaAmeliaPhocomeliaOligodactylyRectal atresiaAbnormal cardiovascular system morphologyEctrodactylyAbnormal humerus morphology
Classification & Codes
MeSH Code
C537554Orphanet Code
ORPHA:2538microgastria-limb reduction defect syndrome
| MeSH | C537554 |
| Orphanet | ORPHA:2538 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO