Living with Spondyloepimetaphyseal dysplasia, Isidor type
A rare bone condition with short stature that begins after birth, bowed legs, and hip and spine changes.
Understanding Spondyloepimetaphyseal dysplasia, Isidor type
Babies have normal birth length, then growth slows early after birth. The trunk and limbs are both short. People may have very bowed legs, stiff hip joints that can't fully straighten, and an inward curve of the lower back. X-rays show flattened spine bones and changes in the hips and knees. Signs may begin in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Short stature with a short trunk and limbs
- Slowed growth after birth
- Very bowed legs (genu varum)
- Stiff hips (flexion contractures)
- Inward curve of the lower back
- Flattened spine bones (platyspondyly)
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 RPL13 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 the RPL13 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: spondyloepimetaphyseal dysplasia isidor type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, Isidor type.
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