Skeletal dysplasia

Gene: TNFRSF11B

Green List (high evidence)

Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood.

More than 10 families reported.

Created: 7 Apr 2022, 1 a.m. | Last Modified: 7 Apr 2022, 1 a.m.

Panel Version: 0.12702

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Paget disease of bone 5, juvenile-onset, MIM# 239000

Publications

• 14672344