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spondylometaphyseal dysplasia, 'corner fracture' type

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
Uniprot Description An autosomal dominant form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDCF is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These corner fractures involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur. They represent irregular ossification at the growth plates and secondary ossification centers.
Mondo Term and Equivalent IDs
MONDO:0008479:  spondylometaphyseal dysplasia, 'corner fracture' type
GARD:0004991: 
MESH:C535793: 
Orphanet:93315: 
SCTID:254078005: 
UMLS:C0432221: