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Synpolydactyly(SDTY2)

MedGen UID:
437845
Concept ID:
C2699746
Congenital Abnormality
Synonyms: Syndactyly type 2; Syndactyly, type II
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.
 
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]

Clinical features

From HPO
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, 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 in a proximo-distal axis are referred to as "Symphalangism".
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
4-5 toe syndactyly
MedGen UID:
324891
Concept ID:
C1837836
Finding
Syndactyly with fusion of toes four and five.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
3-4 finger syndactyly
MedGen UID:
346463
Concept ID:
C1856889
Finding
Syndactyly with fusion of fingers three and four.
6 metacarpals
MedGen UID:
348337
Concept ID:
C1861360
Finding
Y-shaped metacarpals
MedGen UID:
348341
Concept ID:
C1861373
Finding
Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.
2nd-5th toe middle phalangeal hypoplasia
MedGen UID:
348853
Concept ID:
C1861376
Finding
Broad hallux
MedGen UID:
401165
Concept ID:
C1867131
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
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.
Mesoaxial hand polydactyly
MedGen UID:
893020
Concept ID:
C4021606
Anatomical Abnormality
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
Contracture of the proximal interphalangeal joint of the 5th finger
MedGen UID:
767526
Concept ID:
C3554612
Finding
Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.

Professional guidelines

PubMed

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

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
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
Mundlos S
Novartis Found Symp 2001;232:81-91; discussion 91-101. doi: 10.1002/0470846658.ch7. PMID: 11277089
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

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
Kozin SH, Zlotolow DA, Ratner JA
Instr Course Lect 2014;63:143-56. PMID: 24720302
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
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
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

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
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

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
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
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
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
Goodman FR
Am J Med Genet 2002 Oct 15;112(3):256-65. doi: 10.1002/ajmg.10776. PMID: 12357469

Clinical prediction guides

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
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
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
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
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

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