Langer-Giedion syndrome

Langer-Giedion
syndrome • Trichorhinophalangeal syndrome (Langer-Giedion syndrome) - Ganzer Fall bei Radiopaedia
Salam H, Trichorhinophalangeal syndrome (Langer-Giedion syndrome). Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-10590 • CC by-nc-sa 3.0 (modified)
Radiopaedia • CC-by-nc-sa 3.0 • de

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

There can be however multiple of other features such as:

  • multiple exostoses
  • intellectual disability
  • lose redundant skin
Genetics

It occurs from a deletion within chromosome 8.

History and etymology

Named after :

  • Andreas Giedion, Swiss radiologist
  • Leonard O Langer Jr, American (US) radiologist