Langer-Giedion syndrome (LGS), also known as trichorhinophanageal syndrome type II, is an extremely rare autosomal dominant genetic disorder.
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
- mental retardation
- lose redundant skin
It occurs from a deletion within chromosome 8.
History and etymology
Named after 2,3:
- Andreas Giedion, Swiss radiologist
- Leonard O Langer Jr, American (US) radiologist
- 1. Felman AH, Frias JL. The trichorhinophalangeal syndrome: study of 16 patients in one family. AJR Am J Roentgenol. 1977;129 (4): 631-8. doi:10.2214/ajr.129.4.631 - Pubmed citation
- 2. A. Giedion: Das tricho-rhino-phalangeale Syndrom. Helvetica Paediatrica Acta, Basel, 1966, 21: 475.
- 3. Leonard O. Langer. Thoracic-Pelvic-Phalangeal Dystrophy. Radiology. 1968;91 (3): 447-456. Radiology (citation)
- 4. Bauermeister S, Letts M. The orthopaedic manifestations of the Langer-Giedion syndrome. Orthop Rev. 1992;21 (1): 31-5. Pubmed citation
- 5. Devidayal, Marwaha RK. Indian Pediatr. 2006 Feb;43(2):174-5.