Craniometaphyseal dysplasia

rare

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.

Identifiers: MONDO:0015465 Orphanet:1522
Part of: Familial osteosclerosis

Subtypes

All diseases Rare only

Disease

Craniodiaphyseal dysplasia MONDO:0009031
Craniodiaphyseal dysplasia, autosomal dominant MONDO:0021021 SOST
Craniometaphyseal dysplasia, autosomal dominant MONDO:0007397 ANKH
Craniometaphyseal dysplasia, autosomal recessive MONDO:0009035 GJA1

Projects

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