LD24.4

ICD-11 MMS 2026-01

Spondylometaphyseal dysplasias

Description

Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. The disorders are characterised by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.

Index terms

  • Spondylometaphyseal dysplasias
  • Spondylometaphyseal dysplasia, Kozlowski type
  • Spondylometaphyseal dysplasia, 'corner fracture' type
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  • Spondylometaphyseal dysplasia, Schmidt type
  • Spondylometaphyseal dysplasia with severe genu valgum
  • Spondylometaphyseal dysplasia - cone-rod dystrophy
  • Axial spondylometaphyseal dysplasia
  • Spondylometaphyseal dysplasia, Golden type
  • Spondylometaphyseal dysplasia with combined immunodeficiency
  • Roifman-Melamed syndrome
  • Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
  • Spondylometaphyseal dysplasia, A4 type
  • Micromelic dwarfism, Fryns type

Exclusions from above levels

  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD24.0 – Syndromes with micromelia
  • LD24.1 – Bone diseases with increased bone density
  • LD24.2 – Bone diseases with disorganised development of skeletal components
  • LD24.3 – Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
  • LD24.5 – Spondylodysplastic dysplasias
  • LD24.6 – Multiple epiphyseal dysplasia or pseudoachondroplasia
  • LD24.7 – Multiple metaphyseal dysplasias
  • LD24.8 – Acromelic dysplasias
  • LD24.9 – Acromesomelic dysplasias
  • LD24.A – Mesomelic or rhizomesomelic dysplasias
  • LD24.B – Short rib syndromes
  • LD24.C – Bent bone dysplasias
  • LD24.D – Slender bone dysplasias
  • LD24.E – Bone dysplasias with multiple joint dislocations
  • LD24.F – Progressive ossification of skin, skeletal muscle, fascia, tendons or ligaments
  • LD24.G – Syndromic craniosynostoses
  • LD24.H – Dysostoses with predominant vertebral and costal involvement
  • LD24.J – Patellar dysostoses
  • LD24.K – Genetic bone diseases with decreased bone density
  • LD24.Y – Other specified syndromes with skeletal anomalies as a major feature
  • LD24.Z – Syndromes with skeletal anomalies as a major feature, unspecified

Foundation entity

Spondylometaphyseal dysplasias – http://id.who.int/icd/entity/181781948

Part of: LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies