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Synpolydactyly(SDTY2)

MedGen UID:
437845
•Concept ID:
C2699746
•
Congenital Abnormality
Synonym: Syndactyly type 2
SNOMED CT: Syndactyly type 2 (715724002); Synpolydactyly (715724002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Related genes: HOXD13, FBLN1
 
Monarch Initiative: MONDO:0021651
OMIM®: 186000
Orphanet: ORPHA93403

Definition

A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner. [from SNOMEDCT_US]

Professional guidelines

PubMed

Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly.
Yucel A, Kuru I, Bozan ME, Acar M, Solak M
Skeletal Radiol 2005 Aug;34(8):468-76. Epub 2005 Jun 10 doi: 10.1007/s00256-005-0928-5. PMID: 15947976

Recent clinical studies

Etiology

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.
Ten Cate FJ, Don Griot JPW, Alewijnse JV, Alsem MW, Warnink-Kavelaars J, van der Zeeuw FT, Dekker S, Lachkar N, van Doesburg MHM
J Pediatr Orthop 2024 Aug 1;44(7):e662-e667. Epub 2024 Apr 26 doi: 10.1097/BPO.0000000000002705. PMID: 38666494
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
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
Synpolydactyly of the hand: a radiographic classification.
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
Defects of human skeletogenesis--models and mechanisms.
Mundlos S
Novartis Found Symp 2001;232:81-91; discussion 91-101. doi: 10.1002/0470846658.ch7. PMID: 11277089
A family with syndactyly type II (synpolydactyly).
Ridler MA, Laxova R, Dewhurst K, Saldańa-Garcia P
Clin Genet 1977 Oct;12(4):213-20. doi: 10.1111/j.1399-0004.1977.tb00929.x. PMID: 199388

Diagnosis

Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
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
Venturing into the overlap between pediatric orthopaedics and hand surgery.
Kozin SH, Zlotolow DA, Ratner JA
Instr Course Lect 2014;63:143-56. PMID: 24720302
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.
Low KJ, Nwbury-Ecob RA
Clin Dysmorphol 2012 Jul;21(3):141-143. doi: 10.1097/MCD.0b013e32835306f0. PMID: 22473151
Limb skeletal malformations - what the HOX is going on?
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
A family with syndactyly type II (synpolydactyly).
Ridler MA, Laxova R, Dewhurst K, Saldańa-Garcia P
Clin Genet 1977 Oct;12(4):213-20. doi: 10.1111/j.1399-0004.1977.tb00929.x. PMID: 199388

Therapy

Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A.
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
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.
Kuss P, Villavicencio-Lorini P, Witte F, Klose J, Albrecht AN, Seemann P, Hecht J, Mundlos S
J Clin Invest 2009 Jan;119(1):146-56. Epub 2008 Dec 15 doi: 10.1172/JCI36851. PMID: 19075394Free PMC Article

Prognosis

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.
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
Human HOX gene disorders.
Quinonez SC, Innis JW
Mol Genet Metab 2014 Jan;111(1):4-15. Epub 2013 Oct 29 doi: 10.1016/j.ymgme.2013.10.012. PMID: 24239177
Limb skeletal malformations - what the HOX is going on?
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
The pathophysiology of HOX genes and their role in cancer.
Grier DG, Thompson A, Kwasniewska A, McGonigle GJ, Halliday HL, Lappin TR
J Pathol 2005 Jan;205(2):154-71. doi: 10.1002/path.1710. PMID: 15643670
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
Kan SH, Johnson D, Giele H, Wilkie AO
Am J Med Genet A 2003 Aug 15;121A(1):69-74. doi: 10.1002/ajmg.a.20103. PMID: 12900906

Clinical prediction guides

Human HOX gene disorders.
Quinonez SC, Innis JW
Mol Genet Metab 2014 Jan;111(1):4-15. Epub 2013 Oct 29 doi: 10.1016/j.ymgme.2013.10.012. PMID: 24239177
Limb skeletal malformations - what the HOX is going on?
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
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M
Hum Genet 2002 May;110(5):488-94. Epub 2002 Apr 4 doi: 10.1007/s00439-002-0712-8. PMID: 12073020
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ
J Med Genet 2002 Feb;39(2):98-104. doi: 10.1136/jmg.39.2.98. PMID: 11836357Free PMC Article
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM
Am J Hum Genet 2000 Aug;67(2):492-7. Epub 2000 Jun 30 doi: 10.1086/303028. PMID: 10877983Free PMC Article

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