spondyloepiphyseal dysplasia with congenital joint dislocations
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.
MONDO:0019700
obsolete primary bone dysplasia with multiple joint dislocations (obsolete MONDO:0019700)
excluded_subClassOf
MONDO:0000226
mineral metabolism disease
is_a
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
MONDO:0019052
inborn errors of metabolism
is_a
CHST3-related skeletal dysplasia
exact
Gollop Coates syndrome
related
Humerospinal dysostosis
exact
SDCD, CHST3 type
exact
SEDCJD
related
bifurcation of distal humerus with oligoectro-syndactyly
related
chondrodysplasia with congenital joint dislocations, CHST3 type
exact
chondrodysplasia with multiple dislocations
exact
spondyloepiphyseal dysplasia
broad
spondyloepiphyseal dysplasia with congenital joint dislocations
exact
spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
exact