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What is Thanatophoric Dysplasia?

  • A form of dwarfism (skeletal dysplasia)
  • Occurs in 1 in 20,000 to 50,000
  • It is split into Type I and Type II
  • Type I is more common 
  • Caused by mutation in the FGFR3 gene

Diagnosis of Thanatophoric Dysplasia 

  • Before birth: 
    • Ultrasound
  • After birth by:
    • Observation of common physical characteristics

What are common characteristics of Thanatophoric Dysplasia?

  • Extremely short limbed dwarfism 
  • Folds of extra (reduntant) skin
  • Narrow chest
  • Short ribs
  • Underdeveloped lungs
  • Large head with prominent forehead
  • Type I - 
    • curved thigh bone
    • Flattened bones of the spine (platysponyly)
  • Type II - 
    • Straight thigh bones
    • Skull abnormality

*Please be aware, not all of the characteristics may be present*

Other information about Thanatophoric Dysplasia 

  • Intelligence could be affected
  • Life expectancy is affected
  • Affects males and females equally

Genetics of Thanatophoric Dysplasia 

  • Autosomal dominant pattern

Dwarfism Genetics Thanatophoric Dysplasia mutation dominant

Additional reading about Thanatophoric Dysplasia 

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