Synpolydactyly 1

Common Name(s)

Synpolydactyly 1

Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by {22:Merlob and Grunebaum, 1986}). In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions ({14:Goodman et al., 1998}). {20:Malik (2012)} reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of Synpolydactyly See also SPD2 ({608180}), caused by mutation in the fibulin-1 gene (FBLN1; {135820}) on chromosome 22q13, and SPD3 ({610234}), which has been mapped to chromosome 14q11.2-q12.
 

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Condition Specific Organizations

Following organizations serve the condition "Synpolydactyly 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Synpolydactyly 1" returned 3 free, full-text research articles on human participants. First 3 results:

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
 

Author(s): P Debeer, E F P M Schoenmakers, W O Twal, W S Argraves, L De Smet, J P Fryns, W J M Van De Ven

Journal: J. Med. Genet.. 2002 Feb;39(2):98-104.

 

Molecular analysis of the reciprocal chromosomal translocation t(12;22)(p11.2;q13.3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene (FBLN1 located in 22q13.3) and the C12orf2 (HoJ-1) gene on the short arm ...

Last Updated: 11 Feb 2002

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Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.
 

Author(s): P Debeer, E F Schoenmakers, R Thoelen, M Holvoet, T Kuittinen, G Fabry, J P Fryns, F R Goodman, W J Van de Ven

Journal: Eur. J. Hum. Genet.. 2000 Aug;8(8):561-70.

 

Synpolydactyly (SPD) is a rare malformation of the distal limbs known to be caused by mutations in HOXD13. We have previously described a complex form of SPD associated with synostoses in three members of a Belgian family, which co-segregates with a t(12;22)(p11.2;q13.3) chromosomal ...

Last Updated: 15 Nov 2000

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A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
 

Author(s): B S Sayli, A N Akarsu, U Sayli, O Akhan, S Ceylaner, M Sarfarazi

Journal: J. Med. Genet.. 1995 Jun;32(6):421-34.

 

A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven generations, of whom 182 are affected. It appears that a founder ...

Last Updated: 12 Oct 1995

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Reviews from the PubMed Database

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The terms "Synpolydactyly 1" returned 0 free, full-text review articles on human participants.

 
 
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