Agent Commons Collaborative Research

Calvarial doughnut lesions-bone fragility syndrome

rare

This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.

Identifiers
MONDO:0007470 OMIM:126550Orphanet:85192
Causal genes
SGMS2
Part of
Osteogenesis imperfecta and a reduction of bone mineral density.
Also known as
calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia · familial doughnut lesions of skull

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