pseudoachondroplasia
ICD-10: Q77.3MeSH: C535819ORPHA: 750
Overview
osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism
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 pseudoachondroplasia, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityDisproportionate short-limb short staturePlatyspondylyBrachydactylyWaddling gaitDelayed epiphyseal ossificationOsteoarthritisGeneralized joint hypermobilityArthralgiaLumbar hyperlordosisMetaphyseal wideningMetaphyseal irregularityShort long boneAbnormal form of the vertebral bodiesShortening of all metacarpalsIncreased laxity of fingersShort phalanx of fingerLimb undergrowthIrregular epiphysesDistal joint hypermobilityKnee joint hypermobilityWind-swept deformity of the kneesLimited elbow extensionJoint stiffnessScoliosisGenu valgumGenu varumFlared metaphysisHypoplasia of the capital femoral epiphysisLimited hip extensionFlat acetabular roofSkeletal myopathyIrregular carpal bonesBeaking of vertebral bodiesAnkle hypermobilityAbnormal femoral epiphysis morphologyAcetabular dysplasiaIrregular acetabular roofHypoplastic pelvisAbnormal ossification involving the femoral head and neckCone-shaped epiphysisSmall epiphysesShort femoral neckHypoplasia of the odontoid processCervical spine instability
Classification & Codes
ICD-10 Code
Q77.3MeSH Code
C535819Orphanet Code
ORPHA:750pseudoachondroplasia
| ICD-10 | Q77.3 |
| MeSH | C535819 |
| Orphanet | ORPHA:750 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO