Living with Sponastrime dysplasia
A rare genetic bone condition with spine and facial differences, short limbs and bone marrow problems.
Understanding Sponastrime dysplasia
The name refers to spine (spondylo), nose (nasal, saddle nose) and striations in the ends of the long bones (metaphyseal striations). Children are small before and after birth, with short limbs, flattened spine bones, a short neck of the thighbone and a flat midface. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short limbs and short stature
- Flattened spine bones
- Flat nasal bridge and flat midface
- Short fingers and toes
- Knock knees
- Small size at birth
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 TONSL 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 Kniest SED Group
- 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 changes in the TONSL gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: spondylar and nasal alterations with striated metaphyses; spondylar and nasal alterations-striated metaphyses syndrome; spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia; spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia; spondyloepimetaphyseal dysplasia, sponastrime type
Patient organizations
- Kniest SED GroupSponastrime dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Sponastrime dysplasia.
Explore research for Sponastrime dysplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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