Living with Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
An extremely rare bone condition present at birth with dense, thickened bones, a narrow chest, and short limbs.
Understanding Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
It is characterized by swelling from extra fluid before birth (hydrops), a narrow chest, short limbs, and thickened outer layers of the long bones, ribs, collarbones, and shoulder blades. Spine bones have gaps (clefts) seen on imaging.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Very dense, thickened bones
- Narrow chest
- Short limbs
- Swelling from extra fluid (hydrops)
- Clefts in spine bones on imaging
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.
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
GARD says changes in a person's genes cause this condition. It doesn't list a specific gene.
Also known as: dysplastic cortical hyperostosis kozlowski tsuruta type; kozlowski tsuruta syndrome; kozlowski-tsuruta syndrome
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 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type.
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