Spondylometaphyseal dysplasia
February 22 2017
Recommended panel testing at Breda Genetics for this condition: Spondylometaphyseal dysplasias and its differential diagnosis (ACP5, BMP2, BMPR1B, C21orf2, COL11A1, COL11A2, COL2A1, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, NEK1, NOG, PAM16, PAPSS2, PCYT1A, PITX1, ROR2, TRAPPC2, TRPV4) Summary Spondylometaphyseal dysplasias are a heterogeneous group of disorders characterized by platyspondyly (flattened vertebrae) and marked hip and knee
