Living with Mesomelic dysplasia, Savarirayan type
A very rare bone condition with small, triangular shin bones and missing calf bones.
Understanding Mesomelic dysplasia, Savarirayan type
Only two cases, which occurred by chance, have been described. Other signs include moderate shortening of the upper limb middle parts, pelvic differences, and a poorly formed shoulder socket on both sides. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped, triangular shin bones
- Missing calf bones (fibulae)
- Short stature
- Short middle sections of limbs (mesomelia)
- Elbow and hip dislocation
- Bowed long bones
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
Changes in genes (also called variants) cause this condition. GARD lists autosomal dominant inheritance, and the two cases were sporadic. No gene is named.
Also known as: mesomelic dysplasia savarirayan type; mesomelic dysplasia with absent fibula and triangular tibia; mesomelic dysplasia with absent fibulas and triangular tibias; triangular tibia-fibular aplasia syndrome
Patient organizations
- Little People of AmericaMesomelic dysplasia, Savarirayan type · United States
You are more than your diagnosis
Perspectives from people navigating life with Mesomelic dysplasia, Savarirayan type.
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