Diaphanospondylodysostosis (Q86536)

Diaphanospondylodysostosis is a skeletal dysplasia characterised by absent ossification of the vertebral bodies and sacrum associated with variable anomalies (short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate).