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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
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S
Hum Mol Genet 2004 Oct 15;13(20):2351-9. Epub 2004 Aug 27 doi: 10.1093/hmg/ddh277. PMID: 15333588
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

Diagnosis

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
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
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
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
Synpolydactyly of the foot in homozygotes.
Kuru I, Maralcan G, Yucel A, Aktepe F, Turkmen S, Solak M
J Am Podiatr Med Assoc 2006 Jul-Aug;96(4):297-304. doi: 10.7547/0960297. PMID: 16868322
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

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 Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly.
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
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
Limb malformations and the human HOX genes.
Goodman FR
Am J Med Genet 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. PMID: 12357469

Clinical prediction guides

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
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
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ
Proc Natl Acad Sci U S A 1997 Jul 8;94(14):7458-63. doi: 10.1073/pnas.94.14.7458. PMID: 9207113Free PMC Article

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