spondylometaphyseal dysplasia, Kozlowski type
MeSH: C535797ORPHA: 93314
Overview
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly
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, Kozlowski type, sourced from HPO and Orphanet clinical annotations.
Abnormality of the vertebral columnPlatyspondylyGrowth delayDelayed epiphyseal ossificationDisproportionate short-trunk short statureBrachydactylyShort tubular bones of the handGait disturbanceCarpal bone hypoplasiaShort toeWaddling gaitScoliosisCoxa varaAbnormal ilium morphologyFlared iliac wingGenu varumMetaphyseal wideningPremature osteoarthritisAbnormal acetabulum morphologySquared iliac bonesAbnormal enchondral ossificationSevere short statureShort middle phalanx of fingerShort distal phalanx of fingerShort metatarsalPectus carinatumShield chestKyphosisLumbar hyperlordosisThoracic kyphosisRadial bowingAbnormality of the radioulnar jointsLimb joint contractureFlat acetabular roofShort greater sciatic notchHypoplasia of the odontoid processCoronal cleft vertebraeAbnormal humeral metaphysis morphologyCervical platyspondylyVertebral wedgingAbsent epiphyses of the phalanges of the handFlattened femoral epiphysisIncreased intervertebral spaceShort femoral neck
Classification & Codes
MeSH Code
C535797Orphanet Code
ORPHA:93314spondylometaphyseal dysplasia, Kozlowski type
| MeSH | C535797 |
| Orphanet | ORPHA:93314 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO