Diaphanospondylodysostosis

Orpha code: 66637OMIM code: 608022

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
66637
OMIM code
608022
ICD10 code
Q78.8
ICD11 code
-

No additional description.

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