spondylocostal dysostosis type 2

Introduction

heterogeneous group of disorders

Genetics

• type 2 autosomal recessive, associated with defects in MESP2

Clinical manifestations

• abnormal vertebral segmentation
• ribs are frequently malaligned, with points of fusion & somtetimes a diminished number

More general terms

• spondylocostal dysostosis

Database

• OMIM: https://mirror.omim.org/entry/608681