cono-spondylar dysplasia
ORPHA: 420794
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 cono-spondylar dysplasia, sourced from HPO and Orphanet clinical annotations.
HypertelorismLow-set earsAnteverted naresShort neckAbnormality of the skeletal systemBrachydactylySeizureFailure to thriveShort nailAbnormal facial shapeIncoordinationScoliosisEpiphyseal dysplasiaKyphosisShort 4th toeSevere global developmental delayMidface retrusionPartial agenesis of the corpus callosumPolyhydramniosShort humerusShort lower limbsFood intoleranceDysostosis multiplexHypotoniaCone-shaped epiphyses of the phalanges of the handSevere intellectual disability
Classification & Codes
Orphanet Code
ORPHA:420794cono-spondylar dysplasia
| Orphanet | ORPHA:420794 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO