Pseudoachondroplasia

Pseudoachondroplasia

This disorder is clinically similar to achondroplasia. The inheritance pattern is Autosomal Dominant  AD
With a defect on chromosome 19 within the cartilage oligometric matrix (COMP) protein
The affected children have normal facies.
Metaphysis flared
Delayed epiphysis ossification
Cervical instability
Scoliosis