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	ID	Genes
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

Rare disease

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