Langer-Giedion syndrome

Last revised by Dr Daniel J Bell on 17 Jan 2022

Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is an extremely rare autosomal dominant genetic disorder.

Pathology

The effects are seen mainly on the skeletal system and primarily involves

  • hair: "tricho-"
  • nose: "rhino-"
  • digits of the hands and feet: "-phalangeal"

However multiple other features are also seen, such as:

  • multiple exostoses
  • intellectual disability
  • loose redundant skin
Genetics

It occurs from a deletion within chromosome 8.

History and etymology

Named after 2,3:

  • Andreas Giedion, Swiss radiologist
  • Leonard O Langer Jr, American radiologist 

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Cases and figures

  • Case 1
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