Living with Regressive spondylometaphyseal dysplasia
A rare genetic bone condition with short limbs and bowed bones whose X-ray changes improve over time.
Understanding Regressive spondylometaphyseal dysplasia
Other features include a forward curve in the mid to lower back (kyphosis) and short hand bones. The bone changes seen on X-ray typically improve markedly over time. A blood cell difference called Pelger-Huet anomaly, in which white blood cell nuclei are dumbbell-shaped, is characteristic. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short upper arms and thighs (rhizomelia)
- Bowed arm and leg bones
- Flattened spine bones (platyspondyly)
- Forward-curved back (kyphosis)
- Delayed walking
- Very flexible joints and joint dislocations
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.
- 3Consider genetic testing
Changes in LBR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
This condition is caused by changes in the LBR gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: pelger-huet anomaly with mild skeletal anomalies
Patient organizations
- Little People of AmericaRegressive spondylometaphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Regressive spondylometaphyseal dysplasia.
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