spondylocostal dysostosis 7

info · Genetic

A spondylocostal dysostosis characterized by severe rib and vertebral malformations, which may result in lethal respiratory compromise that has_material_basis_in homozygous mutation in the DMRT2 gene on chromosome 9p24.

Signs and symptoms

Tethered cord
Coarse facial features
Abnormally low T cell receptor excision circle level
Hypertelorism
Decreased total lymphocyte count
Patent ductus arteriosus
Posteriorly rotated ears
Kyphoscoliosis
Cleft palate
Bifid ribs