Living with Mesomelic dwarfism, Reinhardt-Pfeiffer type
A rare inherited bone condition with short stature from birth and differences in two lower arm and leg bones.
Understanding Mesomelic dwarfism, Reinhardt-Pfeiffer type
The ulna is a forearm bone and the fibula is a lower leg bone. Other features include limbs that are shorter, elbow dislocation, and skin dimples. It starts in pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with short limbs
- Underdeveloped ulna (forearm bone)
- Short or underdeveloped fibula (calf bone)
- Elbow dislocation
- Fingers bending toward the pinky side
- 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 dwarfism of hypoplastic ulna and fibula type; mesomelic dwarfism reinhardt-pfeiffer type; mesomelic dysplasia of hypoplastic ulna and fibula type; reinhardt pfeiffer mesomelic dysplasia; reinhardt pfeiffer syndrome; reinhardt-pfeiffer mesomelic dysplasia
Patient organizations
- Little People of AmericaMesomelic dwarfism, Reinhardt-Pfeiffer type · United States
You are more than your diagnosis
Perspectives from people navigating life with Mesomelic dwarfism, Reinhardt-Pfeiffer type.
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