SHORT syndrome
MeSH: C537327ORPHA: 3163
Overview
medical condition
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 SHORT syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityInguinal herniaSensorineural hearing impairmentDeeply set eyeSevere short statureHypoplasia of the irisAbnormality of the dentitionAbnormality of the faceMegalocorneaGlaucomaAbnormal pupil morphologyAbnormal dental enamel morphologyMicrodontiaDiabetes mellitusInsulin resistanceAlopeciaWeight lossAbnormal speech patternPoor appetiteExcessive wrinkled skinSparse hairLipodystrophyMidface retrusionMalar flatteningAbnormal mandible morphologyHypertelorismTriangular faceProminent supraorbital ridgesWide nasal bridgeTelecanthusAbnormal anterior chamber morphologyPosterior embryotoxonBrachydactylyShort palmCorneal opacityAbnormal zygomatic bone morphologyProminent forehead
Classification & Codes
MeSH Code
C537327Orphanet Code
ORPHA:3163SHORT syndrome
| MeSH | C537327 |
| Orphanet | ORPHA:3163 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO