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Synpolydactyly type 2(SPD2)

MedGen UID:
331290
Concept ID:
C1842422
Disease or Syndrome
Synonym: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
 
Gene (location): FBLN1 (22q13.31)
 
Monarch Initiative: MONDO:0011984
OMIM®: 608180
Orphanet: ORPHA295197

Definition

Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene. [from MONDO]

Clinical features

From HPO
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the 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 toes in a proximo-distal axis are referred to as "Symphalangism".
Tarsal synostosis
MedGen UID:
539393
Concept ID:
C0265654
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Carpal synostosis
MedGen UID:
98468
Concept ID:
C0431863
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Metatarsal synostosis
MedGen UID:
349573
Concept ID:
C1862697
Finding
Metacarpal synostosis
MedGen UID:
867040
Concept ID:
C4021398
Anatomical Abnormality
Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Synpolydactyly type 2 in Orphanet.

Recent clinical studies

Etiology

Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK
Hum Mutat 2022 Feb;43(2):189-199. Epub 2021 Dec 16 doi: 10.1002/humu.24304. PMID: 34859533
Wall LB, Bae DS, Oishi SN, Calfee RP, Goldfarb CA
J Hand Surg Eur Vol 2016 Mar;41(3):301-7. Epub 2015 Aug 12 doi: 10.1177/1753193415598281. PMID: 26269507
Sahin O, Kuru I, Akgun RC, Sahin BS, Canbeyli ID, Tuncay IC
Bone Joint J 2013 Jul;95-B(7):929-34. doi: 10.1302/0301-620X.95B7.31708. PMID: 23814245
Ogino T, Ishigaki D, Satake H, Iba K
Clin Orthop Surg 2012 Mar;4(1):45-57. Epub 2012 Feb 20 doi: 10.4055/cios.2012.4.1.45. PMID: 22379555Free PMC Article
Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M
J Med Genet 1995 Jun;32(6):421-34. doi: 10.1136/jmg.32.6.421. PMID: 7666393Free PMC Article

Diagnosis

Wang B, Li N, Geng J, Wang Z, Fu Q, Wang J, Xu Y
Congenit Anom (Kyoto) 2017 Jan;57(1):4-7. doi: 10.1111/cga.12173. PMID: 27254532
Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M
Am J Med Genet A 2016 Mar;170(3):615-21. Epub 2015 Nov 18 doi: 10.1002/ajmg.a.37464. PMID: 26581570
Brison N, Tylzanowski P, Debeer P
Eur J Med Genet 2012 Jan;55(1):1-7. Epub 2011 Jul 2 doi: 10.1016/j.ejmg.2011.06.003. PMID: 21782042
Sugiura Y, Lenz W
Am J Med Genet 1999 Apr 23;83(5):353-5. doi: 10.1002/(sici)1096-8628(19990423)83:5<353::aid-ajmg1>3.0.co;2-2. PMID: 10232741

Therapy

Kuss P, Kraft K, Stumm J, Ibrahim D, Vallecillo-Garcia P, Mundlos S, Stricker S
Dev Biol 2014 Jan 1;385(1):83-93. Epub 2013 Oct 23 doi: 10.1016/j.ydbio.2013.10.013. PMID: 24161848

Prognosis

Zaib T, Ji W, Saleem K, Nie G, Li C, Cao L, Xu B, Dong K, Yu H, Hao X, Xue Y, Si S, Jia X, Wu J, Zhang X, Guan R, Ji G, Bai J, Chen F, Liu Y, Sun W, Fu S
BMC Med Genet 2019 Dec 23;20(1):203. doi: 10.1186/s12881-019-0908-6. PMID: 31870337Free PMC Article
Guo X, Shi T, Lin M, Zhang Y
Tohoku J Exp Med 2019 Oct;249(2):93-100. doi: 10.1620/tjem.249.93. PMID: 31611522
Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A
J Med Genet 2018 Jul;55(7):489-496. Epub 2018 Mar 7 doi: 10.1136/jmedgenet-2017-105003. PMID: 29514872
Sahin O, Kuru I, Akgun RC, Sahin BS, Canbeyli ID, Tuncay IC
Bone Joint J 2013 Jul;95-B(7):929-34. doi: 10.1302/0301-620X.95B7.31708. PMID: 23814245
Brison N, Tylzanowski P, Debeer P
Eur J Med Genet 2012 Jan;55(1):1-7. Epub 2011 Jul 2 doi: 10.1016/j.ejmg.2011.06.003. PMID: 21782042

Clinical prediction guides

Guo X, Shi T, Lin M, Zhang Y
Tohoku J Exp Med 2019 Oct;249(2):93-100. doi: 10.1620/tjem.249.93. PMID: 31611522
Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A
J Med Genet 2018 Jul;55(7):489-496. Epub 2018 Mar 7 doi: 10.1136/jmedgenet-2017-105003. PMID: 29514872
Wall LB, Bae DS, Oishi SN, Calfee RP, Goldfarb CA
J Hand Surg Eur Vol 2016 Mar;41(3):301-7. Epub 2015 Aug 12 doi: 10.1177/1753193415598281. PMID: 26269507
Brison N, Tylzanowski P, Debeer P
Eur J Med Genet 2012 Jan;55(1):1-7. Epub 2011 Jul 2 doi: 10.1016/j.ejmg.2011.06.003. PMID: 21782042
Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, Ahmad W, Koch MC, Grzeschik KH
BMC Med Genet 2007 Dec 11;8:78. doi: 10.1186/1471-2350-8-78. PMID: 18072967Free PMC Article

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