What is Léri-Weill Dyschondrosteosis?
- A form of dwarfism
- Affects bone growth
- Incidence unknown
- Seemingly more common in girls
- Mutation of the SHOX gene
- Dominant inheritance pattern
Diagnosis of Léri-Weill Dyschondrosteosis
- After birth by:
- Observation of common physical characteristics
- X-rays
- Molecular genetic testing
What are common characteristics of Léri-Weill Dyschondrosteosis?
- Short stature
- Shortening of lower limbs
- Abnormality of wrist
- Sometimes underdevelopment of jaw
- Increased muscle mass
- Bowing of lower leg
- Greater angling of elbow from body
- High arched palate
*Please be aware, not all of the characteristics may be present*
Other information about Léri-Weill Dyschondrosteosis
- Life expectancy is not affected
- Intelligence is not affected
- Can affect boys and girls, more prevalent in girls
- Similar to Langer Mesomelic Dysplasia
Genetics of Léri-Weill Dyschondrosteosis
- Autosomal recessive pattern
Additional reading about Léri-Weill Dyschondrosteosis
- Genetics Home Reference - Léri-Weill Dyschondrosteosis
- Genetic and Rare Disease Information Centre - Léri-Weill Dyschondrosteosis
- National Organisation for Rare Disorders - Léri-Weill Dyschondrosteosis
- OMIM - Léri-Weill Dyschondrosteosis
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