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spondyloepiphyseal dysplasia with congenital joint dislocations

Disease Summary
Associated Targets (5)
Tbio

5


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Mondo Description CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Uniprot Description A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.
Disease Ontology Description A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
Mondo Term and Equivalent IDs
MONDO:0007738:  spondyloepiphyseal dysplasia with congenital joint dislocations
GARD:0002533: 
MESH:C537283: 
Orphanet:263463: 
SCTID:702400006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)