Types
Defining Characteristics
TALL, heavy, Dutch ancestry, syndactyly, pain w/ point pressure on long bones
Heavy bones!
Disease Development
Disruption of Wnt signaling system causes decreased inhibition of Wnt, resulting in the inhibition of APC/GSK3 complex. Now, B-catenin is active and able to promote transcription of genes involved in osteoblast differentiation,
causing osteosclerosis
Potential Causes
Deactivating mutation in
SOST (Wnt inhibitor)
Risk factors
Autosomal recessive inheritance Dutch ancestry (Afrikaners)
Lab/Imaging
Nl OC
Possible inc alk phosphatase
Complications
Possible optic atrophy, facial nerve palsy, deafness