axial mesodermal dysplasia spectrum
MeSH: C537790ORPHA: 1834
Overview
human disease
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 axial mesodermal dysplasia spectrum, sourced from HPO and Orphanet clinical annotations.
Abnormal morphology of female internal genitaliaAbnormality of the ureterAbnormality of the genital systemAbnormality of the urinary systemRenal cystHydronephrosisGingival overgrowthHydrocephalusHypertelorismFacial asymmetryMicrognathiaPreauricular skin tagShort neckAbnormality of the nervous systemAbnormal rib morphologyCongenital diaphragmatic herniaMissing ribsAbnormality of the skeletal systemLimbal dermoidAbnormality of the liverOmphaloceleOligohydramniosPremature birthAbnormality of the spleenConstipationGastroesophageal refluxAnal atresiaCerebral cortical atrophyAbnormal intestine morphologyTracheoesophageal fistulaAbnormal pelvic girdle bone morphologyScoliosisAbnormality of the kneeAbnormal form of the vertebral bodiesVertebral segmentation defectShort statureAplasia/Hypoplasia of the lungsMicrotiaRenal hypoplasia/aplasiaAbnormal gastrointestinal tract morphologyAnorectal anomalyAbnormal localization of kidney
Classification & Codes
MeSH Code
C537790Orphanet Code
ORPHA:1834axial mesodermal dysplasia spectrum
| MeSH | C537790 |
| Orphanet | ORPHA:1834 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO