Living with Langer mesomelic dysplasia syndrome
A bone growth condition with very short forearms and lower legs, short height, and sometimes a wrist problem.
Understanding Langer mesomelic dysplasia syndrome
The shortening (mesomelia) leads to very short stature. The forearm bone called the ulna and the lower leg bone called the fibula are often underdeveloped or absent. The radius and tibia are short, thick, and curved. Some people have Madelung deformity of the wrist and forearm, which may cause pain and limit wrist movement. Some have a mildly small lower jaw. It starts during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short arms and legs (mesomelia)
- Very short stature
- Underdeveloped or missing ulna and fibula
- Bowed long bones
- Wrist and forearm differences (Madelung deformity)
- High palate
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 and other patient organizations
- 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
Changes in the SHOX gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dyschondrosteosis, homozygous; homozygous dyschondrosteosis; homozygous leri-weill dyschondrosteosis syndrome; langer mesomelic dwarfism; langer mesomelic dysplasia; langer mesomelic dysplasia, pseudoautosomal recessive
Patient organizations
- Little People of AmericaLanger mesomelic dysplasia syndrome · United States
- Human Growth FoundationLanger mesomelic dysplasia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Langer mesomelic dysplasia syndrome.
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