Living with Diaphanospondylodysostosis
A very rare condition in which the bones of the spine do not harden, with a short neck, chest differences, and other variable problems.
Understanding Diaphanospondylodysostosis
It has been described in fewer than ten people from different families. Features include a short neck, a short, wide chest, fewer ribs, and a narrow pelvis. Some people have a spinal opening (myelomeningocele), cystic kidneys, or cleft palate. GARD lists onset during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spine bones not hardened or barely hardened
- Short neck
- Missing ribs
- Trouble breathing
- Multiple kidney cysts
- Narrow pelvis
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 BMPER 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 BMPER gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: vertebral ossification, defect in, with nephrogenic rests
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 Diaphanospondylodysostosis.
Explore research for Diaphanospondylodysostosis
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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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