Copyright
©The Author(s) 2023.
World J Orthop. Jan 18, 2023; 14(1): 13-22
Published online Jan 18, 2023. doi: 10.5312/wjo.v14.i1.13
Published online Jan 18, 2023. doi: 10.5312/wjo.v14.i1.13
Table 1 Mutated genes isolated in non-syndromic polydactyly
| Preaxial | Central | Postaxial | Complex |
| CEP290 | CPLANE1 | GLI3 | MIPOL1 |
| RPGRIP1 | ZNF141 | PITX1 | |
| TMEM216 | DACH1 | LMBR1 | |
| FBN1 | GLI1 | ||
| CEP164 | |||
| MEGF8 | |||
| LMBR1 | |||
| ZRS | |||
| GLI3 | |||
| ZNF141 | |||
| STKLD1 | |||
| GLI1 | |||
| KIAA0586 | |||
| EVC | |||
| HES1 |
Table 2 Mutated genes isolated in syndromic polydactyly
| Syndrome | Mutated gene(s) |
| Bardet-Biedl | CCDC28B, ARL6, MKS1, BBS8, SDCCAG8, LZTFL1, WDPCP, BBS4, BBS12, TMEM67, BBS1, BBS2, BBS6, BBS10, BBS9, BBS7, BBS5, CEP290, TRIM32, BBIP1, ALMS1, MKKS |
| McKusick-Kaufman | MKKS |
| Carpenter | P4HB, RAB23 |
| Saethre-Chotzen | TWIST1, FGFR2 |
| Poland syndrome | - |
| Greig cephalopolysyndactyly | GLI3 |
| Short-rib polydactyly | ATD1, LBN, DYNC2H1, IFT81 |
| Pallister-Hall | GLI3 |
| Triphalangeal thumb-polydactyly | LMBR1 |
| Smith-Lemli-Opitz | DHCR7 |
- Citation: Kyriazis Z, Kollia P, Grivea I, Stefanou N, Sotiriou S, Dailiana ZH. Polydactyly: Clinical and molecular manifestations. World J Orthop 2023; 14(1): 13-22
- URL: https://www.wjgnet.com/2218-5836/full/v14/i1/13.htm
- DOI: https://dx.doi.org/10.5312/wjo.v14.i1.13
