Living with Leri-Weill dyschondrosteosis
An inherited bone growth condition with short arms and legs, short height, and a wrist change called Madelung deformity.
Understanding Leri-Weill dyschondrosteosis
Shortened leg bones usually cause short stature. Most people have Madelung deformity, a change in the wrist and forearm bones that can cause pain and limit wrist movement. It usually appears in childhood or early adolescence. Signs tend to be more severe in females.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shortened arm and leg bones (mesomelia)
- Short stature
- Wrist and forearm change (Madelung deformity)
- Bowed shinbone (tibia)
- Bowing of forearm bones
- Depressed nasal bridge
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in SHOX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SHOX gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: dyschondrosteosis; leri weill dyschondrosteosis; leri-weill dyschondrosteosis, pseudoautosomal dominant; leri-weill dyschondrostosis; leri-weill syndrome; lwd
Patient organizations
- Little People of AmericaLeri-Weill dyschondrosteosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Leri-Weill dyschondrosteosis.
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