Agent Commons Collaborative Research

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 Subtypes
  1. Odontochondrodysplasia MONDO:0031169 2
  2. Kniest dysplasia MONDO:0007987 COL2A1
  3. SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:0850096
  4. Spondyloenchondrodysplasia with immune dysregulation MONDO:0011939 ACP5
  5. Autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223 PAM16
  6. Axial spondylometaphyseal dysplasia MONDO:0011211 CFAP410
  7. Regressive spondylometaphyseal dysplasia MONDO:0018663 LBR
  8. Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0008476 COL2A1
  9. Spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0008479 FN1
  10. Spondylometaphyseal dysplasia, A4 type MONDO:0012185
  11. Spondylometaphyseal dysplasia, Czarny-Ratajczak type MONDO:0018255
  12. Spondylometaphyseal dysplasia, East African type MONDO:0012713
  13. Spondylometaphyseal dysplasia, Golden type MONDO:0010738
  14. Spondylometaphyseal dysplasia, Kozlowski type MONDO:0008477 TRPV4
  15. Spondylometaphyseal dysplasia, Schmidt type MONDO:0008478 COL2A1
  16. Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593 GPX4
  17. Spondylometaphyseal dysplasia, pagnamenta type MONDO:0030487
  18. Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0011856
  19. Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0012160 PCYT1A

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.