Léri–Weill dyschondrosteosis

From WikiProjectMed
Jump to navigation Jump to search
Léri–Weill dyschondrosteosis
Other names: LWD
Léri–Weill dyschondrosteosis is inherited in an autosomal dominant manner

Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).[1]

Signs and symptoms

The clinical presentation of this condition is consistent with short stature and wrist deformity[2]


A Leri-Weill dyschondrosteosis person confirmed by mutation analysis of SHOX gene-heterogygous mutation of c.491G>A (p.W164X) in the SHOX gene

It is caused by mutations in the short-stature homeobox gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.[3]

SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.[4]

Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula.[citation needed]


Diagnosis is made following genetic blood testing.[citation needed]


In terms of management, there is administration of recombinant human growth hormone. Wrist splints, and ergonomic devices for wrist discomfort.[2]


LWD was first described in 1929 by André Léri and Jean A. Weill.[5][6]


  1. Benito-Sanz S, Thomas NS, Huber C, et al. (October 2005). "A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri–Weill Dyschondrosteosis". Am. J. Hum. Genet. 77 (4): 533–44. doi:10.1086/449313. PMC 1275603. PMID 16175500.
  2. 2.0 2.1 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Léri Weill dyschondrosteosis". www.orpha.net. Archived from the original on 12 August 2020. Retrieved 6 July 2022.
  3. Gatta V, Antonucci I, Morizio E, et al. (2007). "Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay". J. Hum. Genet. 52 (1): 21–7. doi:10.1007/s10038-006-0074-5. PMID 17091221.
  4. Fukami M, Dateki S, Kato F, et al. (2008). "Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis". J. Hum. Genet. 53 (5): 454–9. doi:10.1007/s10038-008-0269-z. PMID 18322641.
  5. synd/1662 at Who Named It?
  6. Léri A, Weill JA (1929). "Une affection congénitale et symétrique du développement osseux. La dyschondrostéose". Bulletins et Mémoires de la Société Médicale des Hôpitaux de Paris. 53: 1491–1494.

External links

External resources