LD24.02

ICD-11 MMS 2026-01

Thanatophoric dysplasia

Description

Thanatophoric Dysplasia is a severe skeletal disorder that is lethal in the neonatal period. Two clinically defined TD subtypes have been classified: type I (TDI), characterised by micromelia with bowed femurs and, occasionally, by the presence of cloverleaf skull deformity of varying severity and type II (TDII), characterised by micromelia with straight femurs and a moderate to severe cloverleaf skull deformity.

Index terms

  • Thanatophoric dysplasia
  • TD - [thanatophoric dwarfism]
  • Thanatophoric dwarfism
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  • Thanatophoric short stature
  • thanatophoric dwarf
  • thanatophoric dwarfism or short stature
  • thanatophoric dwarfism syndrome
  • Thanatophoric dysplasia type I
  • Thanatophoric dwarfism type 1
  • Thanatophoric dysplasia type 1
  • Thanatophoric short stature type 1
  • Thanatophoric dysplasia type II
  • Thanatophoric dwarfism type 2
  • Thanatophoric dysplasia type 2
  • Thanatophoric short stature type 2

Exclusions from above levels

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

Sibling codes

  • LD24.00 – Achondroplasia
  • LD24.01 – Hypochondroplasia
  • LD24.03 – Diastrophic dysplasia
  • LD24.04 – Chondrodysplasia punctata
  • LD24.0Y – Other specified syndromes with micromelia
  • LD24.0Z – Syndromes with micromelia, unspecified

Foundation entity

Thanatophoric dysplasia – http://id.who.int/icd/entity/1668919215

Part of: LD24.0: Syndromes with micromelia › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies