Brachyolmia

rare

Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.

Identifiers: MONDO:0015262 Orphanet:1293
Part of: Osteochondrodysplasia Spondylodysplastic dysplasia

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Autosomal recessive brachyolmia	MONDO:0018662	2
Autosomal dominant brachyolmia	MONDO:0007232		TRPV4
Brachyolmia, Maroteaux type	MONDO:0013360

Projects

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