Léri–Weill dyschondrosteosis

Classification	D ICD-10: Q77.8; ICD-9-CM: 756.59; OMIM: 127300; DiseasesDB: 31950;
External resources	GeneReviews: SHOX-Related Haploinsufficiency Disorders; Orphanet: 240;

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]

Causes

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.^[2]

SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.^[3]

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

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

Treatment

History

LWD was first described in 1929 by André Léri and Jean A. Weill.^[4]^[5]

References

↑ "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. October 2005. doi:10.1086/449313. PMID 16175500.
↑ "Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay". J. Hum. Genet. 52 (1): 21–7. 2007. doi:10.1007/s10038-006-0074-5. PMID 17091221.
↑ "Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis". J. Hum. Genet. 53 (5): 454–9. 2008. doi:10.1007/s10038-008-0269-z. PMID 18322641.
↑ synd/1662 at Who Named It?
↑ "Une affection congénitale et symétrique du développement osseux. La dyschondrostéose". Bulletins et Mémoires de la Société Médicale des Hôpitaux de Paris 53: 1491–1494. 1929.

External links

0.00

(0 votes)

Original source: https://en.wikipedia.org/wiki/Léri–Weill dyschondrosteosis. Read more

[pmid16175500-1] "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. October 2005. doi:10.1086/449313. PMID 16175500.

[pmid17091221-2] "Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay". J. Hum. Genet. 52 (1): 21–7. 2007. doi:10.1007/s10038-006-0074-5. PMID 17091221.

[pmid18322641-3] "Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis". J. Hum. Genet. 53 (5): 454–9. 2008. doi:10.1007/s10038-008-0269-z. PMID 18322641.

[4] synd/1662 at Who Named It?

[5] "Une affection congénitale et symétrique du développement osseux. La dyschondrostéose". Bulletins et Mémoires de la Société Médicale des Hôpitaux de Paris 53: 1491–1494. 1929.

[1]

[2]

[3]

[4]

[5]