axial spondylometaphyseal dysplasia
MeSH: C535795ORPHA: 168549
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 axial spondylometaphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.
Rod-cone dystrophyRetinal dystrophyShort ribsNarrow chestDeformed rib cageCupped ribsGrowth delayAbnormal ilium morphologyShort statureThoracic hypoplasiaAbnormal proximal femoral metaphysis morphologyReduced visual acuityIliac crest serrationUpper limb undergrowthAbnormality of the thoracic cavityPlatyspondylyNeonatal respiratory distressCoxa varaProximal femoral metaphyseal irregularityAbnormal metacarpal morphologyFlaring of lower rib cageFlared, irregular rib endsAplasia/Hypoplasia of the ribsAplasia/Hypoplasia of the vertebraeFlattened femoral headRespiratory tract infectionIncreased upper to lower segment ratioPtosisCataractPhotophobiaNystagmusAmblyopiaOptic atrophyOsteopeniaDelayed ossification of carpal bonesMild postnatal growth retardationScoliosisHypoplastic iliac wingThoracic scoliosisAcromesomeliaFlat acetabular roofNarrow greater sciatic notchDisproportionate short-trunk short statureDyschromatopsiaPeripheral retinal degenerationPosterior wedging of vertebral bodiesShort femoral neck
Classification & Codes
MeSH Code
C535795Orphanet Code
ORPHA:168549axial spondylometaphyseal dysplasia
| MeSH | C535795 |
| Orphanet | ORPHA:168549 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO