Léri-Weill dyschondrosteosis (SHOX deficiency)
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A 10-year-old girl with short stature has mesomelic limb shortening (forearms and lower legs) and a visible wrist deformity (Madelung deformity).
Pseudoautosomal dominant; SHOX gene (PAR1 region)
- Haploinsufficiency
- Also contributes to short stature in Turner syndrome
- Mesomelic short stature (middle segments shortened)
- Madelung deformity (dorsal bowing of radius, triangular carpals)
- More severe in females
- Homozygous variants → Langer mesomelic dysplasia (more severe)
- Clinical: disproportionate mesomelic short stature with Madelung deformity, often more pronounced in females
- Radiographs of the wrist: dorsal bowing of the radius, triangularized distal radial epiphysis, and pyramidal/triangular carpal arrangement (Madelung deformity)
- SHOX deletion/duplication analysis (most cases are deletions of SHOX or its enhancers) plus sequencing confirms
- Consider in girls evaluated for short stature; exclude Turner syndrome with a karyotype when clinically indicated
- Growth hormone therapy can improve height outcomes in SHOX deficiency
- Orthopedic referral for symptomatic Madelung deformity; surgical correction (for example, dome osteotomy) for pain or functional limitation
- Monitor growth and skeletal proportions through childhood and adolescence
The SHOX gene is located in pseudoautosomal region 1 (PAR1) and is found on both the X and Y chromosomes. SHOX haploinsufficiency contributes to short stature in both LWD and Turner syndrome.
