Collagen Type 2 Deficiency

Posted by jlovejoy23 @jlovejoy23, Jan 9, 2018

I’m just looking to see if anyone has a collagen type 2 deficiency. My 5 year old son does which causes metaphyseal chondrodysplasia (rigged abnormal growth plates). So he’s very small for his age. He is finally into size 3T pants. I haven’t found anyone else who has this deficiency. He is not technically a “little person” but many little persons do have this disorder. On top of this he also has a growth hormone deficiency that we found out through genetic testing he inherited from me. So we have no idea how tall he will be or what is to be expected for side effects. His spine is not involved which is awesome and he has it in his wrists, 1 hip and ankles. We see a geneticist and an endocrinologist now every 18 months. Started out every 6 to 12 months. If anyone has any insight I would greatly appreciate it. Thank you!

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