spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
ORPHA: 85167
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 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, sourced from HPO and Orphanet clinical annotations.
Visual impairmentCone/cone-rod dystrophyPlatyspondylyBrachydactylyCoxa varaBowing of the legsFlared metaphysisMetaphyseal irregularityShort long boneOvoid vertebral bodiesSevere short statureMetaphyseal spursAbnormal epiphysis morphologyBowing of the long bonesAbnormal retinal pigmentationRhizomeliaShort phalanx of fingerShort metacarpalIvory epiphysesRetinal thinning on OCTAbnormality of refractionCupped ribsHypoplastic iliaNarrow greater sciatic notchFemoral spurStrabismusMicrophthalmiaColobomaOphthalmoplegiaNystagmusRetinal atrophyLens subluxationScoliosisMacular atrophyUndetectable light- and dark-adapted electroretinogramCorneal opacityEctopia pupillaeHypotriglyceridemia
Classification & Codes
Orphanet Code
ORPHA:85167spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
| Orphanet | ORPHA:85167 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO