Diaphanospondylodysostosis (Q86536): Difference between revisions

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Latest revision as of 11:57, 15 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_508093071
English	Diaphanospondylodysostosis	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).