chondroectodermal dysplasia with night blindness
ORPHA: 319195
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 chondroectodermal dysplasia with night blindness, sourced from HPO and Orphanet clinical annotations.
MicrognathiaOtitis mediaPlatyspondylyDelayed skeletal maturationOsteopeniaOsteoporosisMetaphyseal dysplasiaHyperhidrosisGait disturbanceEpiphoraShort statureAbnormal hair morphologyHyperconvex fingernailsEpiphyseal dysplasiaAbnormality of the kneeMetaphyseal irregularityAbnormal patella morphologyRecurrent long bone fracturesWide humerusAbnormal dental morphologyEarly-onset non-progressive night blindnessEquinovarus deformityTalipes calcaneovarusNail dystrophyCongenital onychodystrophyOnychauxisHyperconvex toenail
Classification & Codes
Orphanet Code
ORPHA:319195chondroectodermal dysplasia with night blindness
| Orphanet | ORPHA:319195 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO