Living with Spondyloepiphyseal dysplasia, Reardon type
An extremely rare bone condition with short stature, spine and thigh bone changes, and an unstable neck.
Understanding Spondyloepiphyseal dysplasia, Reardon type
People have short stature and differences in the spine bones and thigh bones. The neck bones can be unstable (cervical instability). Differences in a small bone in the neck, the odontoid process, can lead to nerve and spinal cord symptoms. Signs may begin in the newborn or infant years.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Short stature
- Spine bone differences
- Thigh bone differences
- Unstable neck bones (cervical instability)
- Nerve symptoms linked to the neck bone
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 (variants) cause this condition. It is autosomal dominant, meaning one changed copy of a gene can cause it. GARD doesn't list which gene.
Also known as: spondyloepiphyseal dysplasia with atlantoaxial instability
Patient organizations
- Little People of AmericaSpondyloepiphyseal dysplasia, Reardon type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia, Reardon type.
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