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Table 1 Skeletal dysplasia with significant spinal manifestationsa

From: Best practice guidelines for management of spinal disorders in skeletal dysplasia

Group/Name of DisorderInheritanceGeneOMIM
Number
ORPHANET CodeTypical Spinal Manifestationsb
AchondroplasiaADFGFR3100,80018,0603,5
HypochondroplasiaADFGFR3146,000146,0005
Spondyloepiphyseal dysplasia congenita (SEDC)AD, ARCOL2A1183,900604,864
616,583
1,3,4
Kniest dysplasiaADCOL2A1156,5504851,3,4
Diastrophic dysplasia (DTD)ARSLC26A2222,6006283,4
Atelosteogenesis type 3 (AO3)ADFLNB108,72156,3053,4
Larsen syndrome (dominant)ADFLNB150,2505033,4
Metatropic dysplasiaADTRPV4156,53026351,2,3,4
Pseudoachondroplasia (PSACH)ADCOMP177,1707501,4
Campomelic dysplasia (CD)ADSOX9114,2901403,4
CDP, X-linked dominant, Conradi–Hünermann type (CDPX2)XLEBP302,96035,1733,4
Osteogenesis imperfecta, progressively deforming type (OI type 3)ADCOL1A1
COL1A2
259,420216,8124
Mucopolysaccharidosis type 1HARIDUA607,0145792,3
Mucopolysaccharidosis type 4AARGALNS253,000309,2971,3,4
Mucopolysaccharidosis type 6ARARSB253,2005831,2,3
  1. aadapted from Mortier et al. [1]
  2. b1-cervical instability, 2-cervical stenosis, 3- cervical/thoracic/thoracolumbar kyphosis, 4-scoliosis, 5-lumbar stenosis