Autoszomális domináns
Caused by a change in one copy of ACAN, which makes aggrecan, a protein essential to cartilage in the growth plates and joints. Around half of the reported changes shorten the protein, and they can be inherited from a parent with the same change.
Tünetek és jelek
Short stature, sometimes with a bone age ahead of actual age. Early-onset osteoarthritis and osteochondritis dissecans have been reported, and midface hypoplasia, joint problems or broad great toes may be seen. Severity varies, even within a family.
Mit változtat a diagnózis
Growth and bone age assessment by a paediatric endocrinologist; growth hormone treatment, sometimes combined with medicines that slow bone age, has been used, though long-term evidence is limited. Joint symptoms are managed by orthopaedic and pain specialists. Each child of an affected person may inherit the change, so family testing and genetic counselling are useful.
Vizsgált gének
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- spondyloepimetaphyseal dysplasia, aggrecan type
- spondyloepiphyseal dysplasia, Kimberley type
