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Start free with EleplanLéri-Weill dyschondrosteosis
ORPHA:240Malformation syndrome
Also called Léri-Weill syndrome
What it is
A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.
Key facts
- Age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
34- Abnormal carpal morphology
- Abnormal humerus morphology
- Abnormality of epiphysis morphology
- Abnormality of femur morphology
- Abnormality of pelvic girdle bone morphology
- Abnormality of the hip bone
- Abnormality of tibia morphology
- Abnormal metaphysis morphology
- Abnormal morphology of the radius
- Abnormal morphology of ulna
- Aplastic/hypoplastic toenail
- Brachydactyly
- Clinodactyly of the 5th finger
- Cone-shaped epiphysis
- Depressed nasal bridge
- Diaphyseal thickening
- Disproportionate short-limb short stature
- Dorsal subluxation of ulna
- Exostoses
- Genu varum
- Hypoplasia of the radius
- Hypoplasia of the ulna
- Hypoplastic fingernail
- Joint stiffness
- Limited wrist movement
- Madelung deformity
- Mesomelia
- Micromelia
- Patellar aplasia
- Radial bowing
- Short tibia
- Tibial bowing
- Ulnar bowing
- Wide nasal bridge
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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