IllnessLéri-Weill syndrome

NGS +

Sanger

Léri-Weill dyschondrosteosis causes mesomelia in both sexes, resulting in short stature with Madelung deformity already in infancy or early adolescence. Other features include muscle hypertrophy, tibial bending, cubitus valgus and a high arched palate. More severe features in females may be due to the hormonal status. The most common cause of Léri-Weill dyschondrosteosis are deletions of the entire SHOX gene. In addition to point mutations in the SHOX gene, deletions of nearby regulatory sequences are also identified. Homozygous mutations of the SHOX gene cause Langer mesomelic dysplasia with severe limb aplasia or severe hypoplasia of the ulna and fibula, thickened and curved radius and tibia. These changes can lead to displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed. The mode of inheritance in Leri-Weill syndrome is pseudoautosomal dominant and in Langer mesomelic dysplasia it is pseudoautosomal recessive. The DNA-diagnostic yield rarely exceeds 10-20%, which can be increased to at least 35% by next-generation sequence analysis of other known small-growth-associated genes. However, an inconspicuous molecular genetic result does not exclude clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1215/

• Alias: Dyschondrosteosis; DCO
• Alias: Léri-Weill dyschondrosteosis (SHOX)
• Allelic: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (SHOX)
• Allelic: Short stature, idiopathic familial; SHOX-related short stature (SHOX)