Diaphanospondylodysostosis

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Diaphanospondylodysostosis

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Diaphanospondylodysostosis?

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