Thanatophoric dysplasia

Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.

Different Conditions

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Syndromes with micromelia

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), characterized by micromelia with bowed femurs and, occasionally, by the presence of cloverleaf skull deformity of varying severity and type II (TDII), characterized by micromelia with straight femurs and a moderate to severe cloverleaf skull deformity.

Organ Affected

Entire vertebral column (body structure)|Entire spine (body structure)|Cartilaginous tissue structure (body structure)|Entire bone (organ) (body structure)|Entire bony skeleton (body structure)

Also Known As

  • Thanatophoric short stature
  • Thanatophoric dwarfism
  • thanatophoric dwarf
  • thanatophoric dwarfism or short stature
  • thanatophoric dwarfism syndrome
  • TD - [thanatophoric dwarfism]
  • Related ICD 10 COde
    ICD 10 Code Q77.1

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    Thanatophoric dysplasia

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

    Also Known As

  • Thanatophoric dysplasia type 1
  • Thanatophoric dwarfism type 1
  • Thanatophoric short stature type 1
  • Related ICD 10 COde
    ICD 10 Code Q77.1

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