X-linked chondrodysplasia punctata
MeSH: C002806ORPHA: 35173
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 X-linked chondrodysplasia punctata, sourced from HPO and Orphanet clinical annotations.
Abnormality of the skinEpiphyseal stipplingFacial asymmetryCataractAbnormal skull morphologyErythrodermaFrontal bossingShort statureAnomalous tracheal cartilageDepressed nasal bridgeAnterior rib punctate calcificationsIchthyosisErythematous plaqueScaling skinLower limb asymmetryUpper limb asymmetryAbnormally ossified vertebraeHigh palateHypertelorismLow-set earsMicrocorneaDownslanted palpebral fissuresMicrophthalmiaSparse eyelashesAbnormality of prenatal development or birthFlexion contractureAbnormal nail morphologyTalipes equinovarusNeonatal hypoglycemiaAbnormal lung morphologyCoarse hairPatchy alopeciaKyphoscoliosisHip dislocationPatellar dislocationScarring alopecia of scalpNeonatal epiphyseal stipplingHypoplastic cervical vertebraeNeuropathic spinal arthropathySevere postnatal growth retardationAbnormal hair patternSparse eyebrowHydronephrosisAbnormal pinna morphologySensorineural hearing impairmentArachnoid cyst
Classification & Codes
MeSH Code
C002806Orphanet Code
ORPHA:35173X-linked chondrodysplasia punctata
| MeSH | C002806 |
| Orphanet | ORPHA:35173 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO