OrphanDrug
OrphanDrug
Pharma Knowledge Base

metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

MeSH: C565396ORPHA: 2502

Contents

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

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 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityConductive hearing impairmentMild intellectual disabilityRecurrent otitis mediaBroad palmBroad footShort footAplasia/Hypoplasia of metatarsal bonesNarrow iliac wingGenu varumBowing of the legsFlared metaphysisMetaphyseal wideningShort long boneLong fibulaShort palmBroad phalanxBroad tibial metaphysesWide femoral metaphysisEquinovarus deformityDisproportionate short-limb short statureAntecubital pterygiumMetaphyseal dysplasiaShort femoral neckStrabismusHypermetropia

Classification & Codes

MeSH Code

C565396

Orphanet Code

ORPHA:2502
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
MeSHC565396
OrphanetORPHA:2502
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO