Craniometaphyseal dysplasia

Orpha code: 1522OMIM code: 218400

Definition

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Disease data
Classification

Malformation syndrome

ORPHA code
1522
OMIM code
218400
ICD10 code
Q78.8
ICD11 code
LD24.1Y

No additional description.

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