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Polydactyly, postaxial, type A1(PAPA1)

MedGen UID:
924305
Concept ID:
C4282400
Congenital Abnormality
Synonym: Polydactyly, Postaxial, Type A1
 
Gene (location): GLI3 (7p14.1)
 
Monarch Initiative: MONDO:0008266
OMIM®: 174200

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Triphalangeal thumb
MedGen UID:
66029
Concept ID:
C0241397
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Increased thumb width without increased dorso-ventral dimension.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.

Professional guidelines

PubMed

Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article

Recent clinical studies

Etiology

Bjorklund KA, O'Brien M
Hand (N Y) 2022 Nov;17(6):1286-1291. Epub 2021 Feb 25 doi: 10.1177/1558944721994255. PMID: 33631987Free PMC Article
Chocron Y, Kazan R, Abi-Rafeh J, Lessard A, Thibaudeau S
J Plast Reconstr Aesthet Surg 2021 Nov;74(11):2977-2992. Epub 2021 Apr 18 doi: 10.1016/j.bjps.2021.03.094. PMID: 33992559
Ortiz-Cruz G, Luna-Muñoz L, Arteaga-Vázquez J, Mutchinick OM
Am J Med Genet A 2019 Aug;179(8):1432-1441. Epub 2019 May 15 doi: 10.1002/ajmg.a.61193. PMID: 31091006
Ishigaki T, Akita S, Suzuki H, Udagawa A, Mitsukawa N
J Plast Reconstr Aesthet Surg 2019 Jul;72(7):1170-1177. Epub 2019 Mar 2 doi: 10.1016/j.bjps.2019.02.030. PMID: 30898504
Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184. PMID: 29377639

Diagnosis

Sakai Y, Kawamura D, Endo T, Iwasaki N
J Pediatr Orthop 2023 Mar 1;43(3):e244-e248. Epub 2022 Dec 8 doi: 10.1097/BPO.0000000000002323. PMID: 36476945
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE
J Med Case Rep 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. PMID: 35484558Free PMC Article
Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article
Chocron Y, Kazan R, Abi-Rafeh J, Lessard A, Thibaudeau S
J Plast Reconstr Aesthet Surg 2021 Nov;74(11):2977-2992. Epub 2021 Apr 18 doi: 10.1016/j.bjps.2021.03.094. PMID: 33992559
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article

Therapy

Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article
Mantilla-Rivas E, Tan P, Zajac J, Tilt A, Rogers GF, Oh AK
Plast Reconstr Surg 2019 Jul;144(1):149-154. doi: 10.1097/PRS.0000000000005719. PMID: 31246822
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM
J Bone Miner Res 2019 Feb;34(2):375-386. Epub 2018 Nov 5 doi: 10.1002/jbmr.3594. PMID: 30395363Free PMC Article
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):321-7. PMID: 24340511

Prognosis

Yao Y, Deng S, Zhu F
Genes (Basel) 2022 Jul 11;13(7) doi: 10.3390/genes13071230. PMID: 35886013Free PMC Article
Bjorklund KA, O'Brien M
Hand (N Y) 2022 Nov;17(6):1286-1291. Epub 2021 Feb 25 doi: 10.1177/1558944721994255. PMID: 33631987Free PMC Article
Hayat A, Umair M, Abbas S, Rauf A, Ahmad F, Ullah S, Ahmad W, Khan B
Genomics 2020 Jul;112(4):2729-2733. Epub 2020 Mar 5 doi: 10.1016/j.ygeno.2020.03.006. PMID: 32147526
Ishigaki T, Akita S, Suzuki H, Udagawa A, Mitsukawa N
J Plast Reconstr Aesthet Surg 2019 Jul;72(7):1170-1177. Epub 2019 Mar 2 doi: 10.1016/j.bjps.2019.02.030. PMID: 30898504
Carpenter CL, Cuellar TA, Friel MT
Plast Reconstr Surg 2016 Feb;137(2):564-568. doi: 10.1097/01.prs.0000475787.67693.e7. PMID: 26818291

Clinical prediction guides

Sakai Y, Kawamura D, Endo T, Iwasaki N
J Pediatr Orthop 2023 Mar 1;43(3):e244-e248. Epub 2022 Dec 8 doi: 10.1097/BPO.0000000000002323. PMID: 36476945
Saijo H, Yoshimoto H, Kashiyama K, Imamura Y, Iwao A, Tanaka K
J Foot Ankle Surg 2022 May-Jun;61(3):621-626. Epub 2021 Oct 28 doi: 10.1053/j.jfas.2021.10.025. PMID: 34802909
Bjorklund KA, O'Brien M
Hand (N Y) 2022 Nov;17(6):1286-1291. Epub 2021 Feb 25 doi: 10.1177/1558944721994255. PMID: 33631987Free PMC Article
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article
Ishigaki T, Akita S, Suzuki H, Udagawa A, Mitsukawa N
J Plast Reconstr Aesthet Surg 2019 Jul;72(7):1170-1177. Epub 2019 Mar 2 doi: 10.1016/j.bjps.2019.02.030. PMID: 30898504

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