Living with Mesomelic dysplasia, Kantaputra type
A rare inherited bone condition with short middle sections of the limbs and short stature.
Understanding Mesomelic dysplasia, Kantaputra type
It causes short stature. It is present from birth. Other bone differences can involve the upper arm bone, wrists, ankles, and fingers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short middle sections of the limbs (mesomelia)
- Short stature
- Dumbbell-shaped upper arm bone
- Fused wrist or ankle bones
- Fingers bent toward the pinky side
- Curved or bent little finger
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. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: kantaputra mesomelic dysplasia; mdk; mesomelic dysplasia kantaputra type; mesomelic dysplasia thai type; mesomelic dysplasia with ankle carpal and tarsal synostosis; mesomelic dysplasia, thai type
Patient organizations
- Little People of AmericaMesomelic dysplasia, Kantaputra type · United States
You are more than your diagnosis
Perspectives from people navigating life with Mesomelic dysplasia, Kantaputra type.
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