" /> Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome - CISMeF





Preferred Label : Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome;

Obsolete resource : true;

NCIt definition : A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.;

NCIt note : See 'Spondyloepimetaphyseal Dysplasia, Sponastrime Type(C129031)';

Concept status : Retired_Concept;

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27/07/2025


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