Dyggve–Melchior–Clausen syndrome
MeSH: C535726ORPHA: 239
Overview
rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias
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 Dyggve–Melchior–Clausen syndrome, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityFailure to thriveSpondyloepimetaphyseal dysplasiaDisproportionate short-trunk short statureMicrocephalyCoarse facial featuresShort neckPectus carinatumBroad ribsAbnormality of the vertebral columnPlatyspondylyHypoplastic iliaMotor delaySkeletal dysplasiaEpiphyseal dysplasiaShort long boneHypoplasia of the capital femoral epiphysisWide pubic symphysisAbnormal hip bone morphologyHypoplastic acetabulaeAbnormal femoral head morphologySevere short statureLimb muscle weaknessBeaking of vertebral bodiesAbnormality of the vertebral endplatesBroad femoral neckIliac crest serrationRhizomeliaShort thoraxSevere intellectual disabilityHorizontal inferior border of scapulaAbnormal pelvis bone morphologyMetaphyseal dysplasiaDelayed speech and language developmentHyperactivityMild intellectual disabilitySpastic tetraparesisHyperreflexiaLimited elbow extensionProtuberant abdomenFrequent fallsPoor speechInability to walkRespiratory insufficiency due to muscle weaknessRecurrent upper respiratory tract infectionsCoxa varaGenu valgumAbnormality of the ankleLimited knee extensionHypoplasia of the odontoid processAtlantoaxial instabilityDifficulty standingBroad carpal bonesGlenoid fossa hypoplasiaDiminished ability to concentrateGait disturbance
Classification & Codes
MeSH Code
C535726Orphanet Code
ORPHA:239Dyggve–Melchior–Clausen syndrome
| MeSH | C535726 |
| Orphanet | ORPHA:239 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO