OrphanDrug
OrphanDrug
Pharma Knowledge Base

spondyloepiphyseal dysplasia tarda, Kohn type

MeSH: C564796ORPHA: 163665

Contents

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

Overview

Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit

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, Kohn type, sourced from HPO and Orphanet clinical annotations.

PlatyspondylyAbnormality of the kneeAbnormal ilium morphologyAbnormality of the ankleAbnormal vertebral morphologyDisproportionate short-trunk short statureShort statureRestricted large joint movementBilateral coxa valgaMild intellectual disabilityModerate intellectual disability

Classification & Codes

MeSH Code

C564796

Orphanet Code

ORPHA:163665
spondyloepiphyseal dysplasia tarda, Kohn type
MeSHC564796
OrphanetORPHA:163665
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO