Catalog

Diaphanospondylodysostosis

No MMS code

Link to WHO Definition

Diaphanospondylodysostosis – http://id.who.int/icd/entity/508093071

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).