dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Findings
No curated finding names dysplastic cortical hyperostosis, Kozlowski-Tsuruta type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
Definition from the Mondo Disease Ontology (MONDO:0100527), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Abnormal limb bone morphologyHPOHP:0002813
- Very frequent (80% to 99% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Very frequent (80% to 99% of cases)
- Abnormality of the urinary systemHPOHP:0000079
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Also called
- Kozlowski-Tsuruta syndrome