Pseudoachondroplasia (PSACH) refers to an osteochondrodysplasia  which is characterized by

It is also characterized by the absence of abnormality at birth and a normal craniofacial appearance.


Due to mutations in the gene encoding cartilage oligomeric matrix protein. Pathognomonic changes of vertebral bodies are thought to invariably disappear around the age of 10.


It carries an autosomal dominant inheritance .

See also

Siehe auch: