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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: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSynpolydactyly

Abnormality of limbs
- Abnormality of limb bone
  - Abnormal limb bone morphology
    - Abnormal digit morphology
      - Syndactyly
        Non-syndromic syndactyly
        Synpolydactyly
        Synpolydactyly type 1
        Synpolydactyly type 2
        Synpolydactyly type 3

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

See all (1)

Recent clinical studies

Etiology

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 G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.

Fantini S, Vaccari G, Brison N, Debeer P, Tylzanowski P, Zappavigna V
Hum Mol Genet 2009 Mar 1;18(5):847-60. Epub 2008 Dec 5 doi: 10.1093/hmg/ddn410. PMID: 19060004

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

See all (9)

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

See all (11)

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: 19075394 Free PMC Article

See all (2)

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

See all (11)

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

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

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

See all (28)