Dysspondyloenchondromatosis

Orpha code: 85198OMIM code:

Definition

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.

Disease data
Classification

Malformation syndrome

ORPHA code
85198
OMIM code
-
ICD10 code
Q78.4
ICD11 code
-

No additional description.

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