Calvarial doughnut lesions-bone fragility syndrome

Orpha code: 85192OMIM code: 126550

Definition

A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.

Disease data
Classification

Malformation syndrome

Synonyms
Familial doughnut lesions of skull
Rodzinne ubytki w czaszce typu "dougnut
ORPHA code
85192
OMIM code
126550
ICD10 code
M85.8
ICD11 code
-

No additional description.

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