Living with Mesomelic dwarfism, Nievergelt type
A rare inherited bone condition with severely short lower limbs, unusual leg bones, and skin dimples.
Understanding Mesomelic dwarfism, Nievergelt type
The shinbones and calf bones have a triangular or diamond shape. There are bony bumps and skin dimples. The hands and feet can have differences, such as fused or webbed fingers or a clubfoot. Forearm bones can be fused and the elbow can be out of place. Facial features can differ. It starts in pregnancy and the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short middle sections of limbs (mesomelia)
- Short stature
- Unusually shaped shin and calf bones
- Elbow dislocation
- Fused forearm or ankle bones
- Bent fingers and skin dimples
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: mesomelic dysplasia - nievergelt type; mesomelic dysplasia, nievergelt type; nievergelt syndrome; nievergelt-erb syndrome; nievergelt's syndrome
Patient organizations
- Little People of AmericaMesomelic dwarfism, Nievergelt type · United States
You are more than your diagnosis
Perspectives from people navigating life with Mesomelic dwarfism, Nievergelt type.
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