Living with Rhizomelic dysplasia, Patterson-Lowry type
A rare bone growth condition with short height and very short upper arms, with differences in the upper arm bones and hips.
Understanding Rhizomelic dysplasia, Patterson-Lowry type
The upper arm bones (humerus) have a distinct shape. The hips are bent inward (coxa vara) and the hand bones may be short. It begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short upper arms (rhizomelia)
- Short upper arm bone (humerus) with odd shape
- Hips bent inward (coxa vara)
- Knock knees
- Short fingers and toes
- Flat face and flat nose
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
GARD lists autosomal recessive inheritance, so a child inherits a changed copy of the gene from each parent. It does not name a gene.
Also known as: patterson lowry syndrome; rhizomelic dysplasia of patterson lowry type; rhizomelic dysplasia patterson lowry type
Patient organizations
- Little People of AmericaRhizomelic dysplasia, Patterson-Lowry type · United States
You are more than your diagnosis
Perspectives from people navigating life with Rhizomelic dysplasia, Patterson-Lowry type.
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