Spondyloepimetaphyseal dysplasia with joint laxity

Definition

A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.

Also known as SEMD-JL, SEMDJL, spondyloepimetaphyseal dysplasia with joint laxity — per MONDO

Also identified as

• DOID 0112197 per MONDO
• ICD9 719.80 per MONDO
• ICD9 756.9 per MONDO
• MESH C562968 per MONDO
• Orphanet 93359 per MONDO
• SCTID 254100000 per MONDO
• UMLS C0432243 per MONDO