thanatophoric dysplasia type 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Print

Disease Overview

Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.


Synonyms

  • PLSD San Diego type
  • Platyspondylic lethal skeletal dysplasia, San Diego type
  • TD1
  • lethal short-limbed Platyspondylic dwarfism, San Diego type
  • thanatophoric dwarfism
  • thanatophoric dwarfism 1
  • thanatophoric dwarfism type 1
  • thanatophoric dysplasia
  • thanatophoric dysplasia type I
  • thanatophoric dysplasia, type 1
  • thanatophoric dysplasia, type I
  • type 1 thanatophoric dysplasiaPLSD San Diego type
  • Platyspondylic lethal skeletal dysplasia, San Diego type
  • TD1
  • lethal short-limbed Platyspondylic dwarfism, San Diego type
  • thanatophoric dwarfism
  • thanatophoric dwarfism 1
  • thanatophoric dwarfism type 1
  • thanatophoric dysplasia
  • thanatophoric dysplasia type I
  • thanatophoric dysplasia, type 1
  • thanatophoric dysplasia, type I
  • type 1 thanatophoric dysplasia