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Spondylometaphyseal dysplasia

rare

Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.

Identifiers: MONDO:0016763 Orphanet:254
Part of: Skeletal dysplasia

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Odontochondrodysplasia	MONDO:0031169	2
Kniest dysplasia	MONDO:0007987		COL2A1
SBDS-related severe neonatal spondylometaphyseal dysplasia	MONDO:0850096
Spondyloenchondrodysplasia with immune dysregulation	MONDO:0011939		ACP5
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type	MONDO:0013223		PAM16
Axial spondylometaphyseal dysplasia	MONDO:0011211		CFAP410
Regressive spondylometaphyseal dysplasia	MONDO:0018663		LBR
Spondyloepimetaphyseal dysplasia, Strudwick type	MONDO:0008476		COL2A1
Spondylometaphyseal dysplasia, 'corner fracture' type	MONDO:0008479		FN1
Spondylometaphyseal dysplasia, A4 type	MONDO:0012185
Spondylometaphyseal dysplasia, Czarny-Ratajczak type	MONDO:0018255
Spondylometaphyseal dysplasia, East African type	MONDO:0012713
Spondylometaphyseal dysplasia, Golden type	MONDO:0010738
Spondylometaphyseal dysplasia, Kozlowski type	MONDO:0008477		TRPV4
Spondylometaphyseal dysplasia, Schmidt type	MONDO:0008478		COL2A1
Spondylometaphyseal dysplasia, Sedaghatian type	MONDO:0009593		GPX4
Spondylometaphyseal dysplasia, pagnamenta type	MONDO:0030487
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	MONDO:0011856
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	MONDO:0012160		PCYT1A

Rare disease

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