Table 1.
Skeletal dysplasia with significant spinal manifestationsa
| Group/Name of Disorder | Inheritance | Gene | OMIM Number |
ORPHANET Code | Typical Spinal Manifestationsb |
|---|---|---|---|---|---|
| Achondroplasia | AD | FGFR3 | 100,800 | 18,060 | 3,5 |
| Hypochondroplasia | AD | FGFR3 | 146,000 | 146,000 | 5 |
| Spondyloepiphyseal dysplasia congenita (SEDC) | AD, AR | COL2A1 | 183,900 |
604,864 616,583 |
1,3,4 |
| Kniest dysplasia | AD | COL2A1 | 156,550 | 485 | 1,3,4 |
| Diastrophic dysplasia (DTD) | AR | SLC26A2 | 222,600 | 628 | 3,4 |
| Atelosteogenesis type 3 (AO3) | AD | FLNB | 108,721 | 56,305 | 3,4 |
| Larsen syndrome (dominant) | AD | FLNB | 150,250 | 503 | 3,4 |
| Metatropic dysplasia | AD | TRPV4 | 156,530 | 2635 | 1,2,3,4 |
| Pseudoachondroplasia (PSACH) | AD | COMP | 177,170 | 750 | 1,4 |
| Campomelic dysplasia (CD) | AD | SOX9 | 114,290 | 140 | 3,4 |
| CDP, X-linked dominant, Conradi–Hünermann type (CDPX2) | XL | EBP | 302,960 | 35,173 | 3,4 |
| Osteogenesis imperfecta, progressively deforming type (OI type 3) | AD |
COL1A1 COL1A2 |
259,420 | 216,812 | 4 |
| Mucopolysaccharidosis type 1H | AR | IDUA | 607,014 | 579 | 2,3 |
| Mucopolysaccharidosis type 4A | AR | GALNS | 253,000 | 309,297 | 1,3,4 |
| Mucopolysaccharidosis type 6 | AR | ARSB | 253,200 | 583 | 1,2,3 |
aadapted from Mortier et al. [1]
b1-cervical instability, 2-cervical stenosis, 3- cervical/thoracic/thoracolumbar kyphosis, 4-scoliosis, 5-lumbar stenosis