Table 2.
Rare variants of Ehlers-Danlos syndrome with currently unavailable clinical diagnostic criteria
| Rare variant | Inheritance | Gene(s) | |
|---|---|---|---|
| Association with 21 α-hydroxylase deficiency | AR | TNXB, CYP21B | |
| Association with Gilles de la Tourette syndrome | AD | HDC | |
| Association with parodontitis | AD | Unknown | |
| Association with periventricular heterotopia | XLD | FLNA | |
| Brittle cornea syndrome type 1 | AR | ZNF469 | |
| Brittle cornea syndrome type 2 | AR | PRDM5 | |
| Cardiac-valvular | AR | COL1A2 | |
| Classic with arterial rupture | AD | COL1A1 | |
| Ehlers-Danlos syndrome/osteogenesis imperfecta overlap | AD | COL1A1, COL1A2 | |
| Ehlers-Danlos syndrome-like due to 6q27 deletion | Sporadic/AD | Not applicable | |
| Kyphoscoliotic with myopathy and deafness | AR | FKBP14 | |
| Musculocontractural, type 1 | AR | CHST14 | |
| Musculocontractural, type 2 | AR | DSE | |
| Overlap phenotype due to COL3A1/COL5A2/MSTN haploinsufficiency | AD | COL3A1, COL5A2, MSTN (deletion) | |
| Progeroid | AR | B4GALT7 | |
| Spondylocheirodysplasia | AR | SLC39A13 | |
| Tenascin X-deficient | AR, AD (?) | TNXB | |
AD: Autosomal dominant; AR: Autosomal recessive; XLD: X-linked dominant; EDS: Ehlers-Danlos syndrome