" /> Desbuquois syndrome - CISMeF





Preferred Label : Desbuquois syndrome;

ICD-11 definition : Desbuquois syndrome is a rare osteochondrodysplasia which manifestations include short stature of prenatal onset with rhizomelic and mesomelic shortness, marked joint laxity, kyphoscoliosis and characteristic facial dysmorphism. The disease is clinically heterogeneous with variable severity.;

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Desbuquois syndrome is a rare osteochondrodysplasia which manifestations include short stature of prenatal onset with rhizomelic and mesomelic shortness, marked joint laxity, kyphoscoliosis and characteristic facial dysmorphism. The disease is clinically heterogeneous with variable severity.

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06/05/2025


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