Diaphanospondylodysostosis

MONDO:0011946

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a 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.

Also known as: diaphanospondylodysostosis, vertebral ossification, defect in, with nephrogenic rests

35 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by