Leri-Weill syndrome

(redirected from Leri-weill dyschondrosteosis)
Also found in: Acronyms.


(dis'kon-dros'tē-ō'sis), [MIM*127300]
A skeletal dysplasia, more severe in females and with a female preponderance, characterized by bowing of radius, dorsal dislocation of the distal ulna with limited movement of the elbow and wrist (wrist deformity is called Madelung deformity), and mesomelic dwarfism; dominant inheritance, caused by mutation in the short stature homeobox gene (SHOX) on the pseudoautosomal region of Xp. Langer mesomelic dysplasia, the homozygous form of dyschondrosteosis, is also caused by homozygous mutations in the SHOX gene.
[dys- + G. chondros, cartilage, + osteon, bone, + -osis, condition]
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Leri-Weill syndrome

The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.


André, French orthopedic surgeon, 1875-1930.
Leri pleonosteosis - Synonym(s): dyschondrosteosis
Leri sign - voluntary flexion of the elbow is impossible in a case of hemiplegia when the wrist on that side is passively flexed.
Leri-Weill disease - Synonym(s): dyschondrosteosis
Leri-Weill syndrome - Synonym(s): dyschondrosteosis
Marie-Leri syndrome - see under Marie, Pierre


Jean A., French physician, 1903–.
Leri-Weill disease - Synonym(s): dyschondrosteosis
Leri-Weill syndrome - Synonym(s): dyschondrosteosis
Medical Eponyms © Farlex 2012
References in periodicals archive ?
SHOX deficiency is also the primary cause of short stature in most patients with Leri-Weill dyschondrosteosis. Loss of both SHOX alleles causes an extreme phenotype of osteodysplasia, which is also called Langer syndrome [1].
Marchini et al., "A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia.," Journal of medical genetics, vol.
The SHOX gene has been reported to cause ISS and the short stature seen in patients with Turner's syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia (5,6,7,8).