Differential diagnosis of sponastrime dysplasia
| Feature | Sponastrime | SEMD with large joint dislocations10 | Camera et al11 | Verloes et al12 |
| Intelligence | Normal | Normal | Severe retardation | Severe retardation |
| Short stature | + | + | + | + |
| Midface hypoplasia | + | + | + | + |
| Saddle nose | + | + | + | + |
| Rocker bottom feet | − | − | − | + |
| Joint laxity | + | ++ | ? | + |
| Hypotonia | + | + | + | +++ |
| Large joint dislocations | − | ++ | − | − |
| Osteopenia | + | − | + | +++ |
| Microcephaly | − | − | + | + |
| Wormian bones | − | − | − | + |
| Striated metaphyses1-150 | +/++ | + | + | − |
| Irregular metaphyseal margins1-150 | + | − | − | − |
| Epiphyseal involvement | + | ++ | + | −/+ |
| Delayed bone age | + | + | + | + |
| Scoliosis | +/+++ | + | − | + |
| Characterisic age related vertebral changes1-150 | ++ | − | − | − |
| Lumbar lordosis | + | + | + | − |
| Reduction in interpedicular distances from L1 to L5 | + | + | − | − |
| Gracile metacarpals | − | + | ? | − |
| Brachymetacarpy | + | − | ? | + |
| Pseudoepiphyses of metacarpals | + | − | − | + |
| Long slender phalanges | − | + | ? | − |
| MCPP | Up - down variation | ? | ? | Relatively flat |
↵1-150 Major radiological diagnostic features of sponastrime dysplasia.
+ mild; ++ moderate; +++ severe; − absent; ? not mentioned in paper.