spondylocostal dysostosis 5

info · Genetic

A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2.

Signs and symptoms

Disproportionate short-trunk short stature
Scoliosis
Hemivertebrae
Vertebral fusion
Missing ribs
Severe short stature
Posterior rib fusion
Low back pain
Supernumerary ribs
Butterfly vertebrae

Also known as: SCDO5