Polydactyly: Clinical and molecular manifestations

doi:10.5312/wjo.v14.i1.13

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Jan 18, 2023 (publication date) through May 13, 2024

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World Journal of Orthopedics

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2218-5836

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Orthop. Jan 18, 2023; 14(1): 13-22
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