spondyloepiphyseal dysplasia tarda

MeSH: C566658ORPHA: 93284

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22

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 spondyloepiphyseal dysplasia tarda, sourced from HPO and Orphanet clinical annotations.

PlatyspondylyFailure to thriveBarrel-shaped chestMultiple epiphyseal dysplasiaEnlarged metaphysesPremature osteoarthritisDisproportionate short-trunk short statureHump-shaped mound of bone in central and posterior portions of vertebral endplateMultiple skeletal anomaliesIncreased arm spanShort neckLimitation of joint mobilityJoint swellingAbnormal cartilage morphologyArthralgiaIntervertebral space narrowingAbnormal shoulder morphologyArthralgia of the hipBack painSpurred metaphyses of the upper limbsKnee osteoarthritisHip osteoarthritisAbnormal epiphyseal ossificationIncreased bone mineral densityKnee painAbnormally ossified vertebraeAbnormal lumbar spine morphologyScoliosisKyphoscoliosisCoxa varaLumbar hyperlordosisThoracic kyphosisLimited elbow movementHypoplasia of the odontoid processAbnormality of the tibial plateauxBiconcave vertebral bodiesDecreased cervical spine mobilityOsteoarthritis of the distal interphalangeal jointLimited wrist movementLimited shoulder movementFlattened femoral headLimb painEnlarged epiphyses of the phalanges of the handDysplasia of the femoral headFinger swellingStiff kneeLocalized osteoporosisShort femoral neckParesthesia

Classification & Codes

MeSH Code

C566658

Orphanet Code

ORPHA:93284

spondyloepiphyseal dysplasia tarda

MeSH	`C566658`
Orphanet	`ORPHA:93284`
Treatments	0 drug(s)
Symptoms on record	49 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO