Symbol
| WZS
|
Location
| 6p21.32
|
Name
|
Weissenbacher-Zweymuller syndrome |
Other name(s)
|
Pierre Robin syndrome with fetal chondrodysplasia
otospondylomegaepiphyseal dysplasia, autosomal dominant |
Corresponding gene
|
COL11A2
|
Other symbol(s)
| OSMEDA
|
Main clinical features
|
with neonatal micrognathia and rhizomelic chondrodysplasia, with dumbbell-shaped femora and humeri, regression of bone changes and normal growth in later years and radiologically there are also vertebral coronal clefts |
Genetic determination
| autosomal recessive |
Function/system disorder
| osteo-articular |
Type
| disease
|