Spondyloepimetaphyseal dysplasia, sponastrime type

Definition

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

Also known as sponastrime dysplasia, spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia, spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia, spondyloepimetaphyseal dysplasia, Sponastrime type — per MONDO

Also identified as

• DOID 5684 per MONDO
• ICD9 756.9 per MONDO
• MESH C535786 per MONDO
• NCIT C129031 per MONDO
• OMIM 271510 per MONDO
• Orphanet 93357 per MONDO
• SCTID 389161008 per MONDO
• UMLS C1300260 per MONDO