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Syndactyly, type 2

Known as: Synpolydactyly, SYNPOLYDACTYLY 1, Synpolydactyly-1 
A rare genetic disorder characterized by malformations in the hands and feet. The abnormalities include increased number of fingers and toes and… 
National Institutes of Health

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Related topics

7 relations
Autosomal dominant inheritanceHOXD13, ARG306GLYHOXD13, IVS1, G-A, +1Mesoaxial polydactyly

Broader (1)

Syndactyly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
2012
2012
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.
We report on a female who was the third daughter of a consanguineous couple (first cousins). Abnormalities were first detected at… 
2011
2011
Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.
2011
2011
[Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis].
OBJECTIVE To identify potential mutation responsible for synpolydactyly (SPD) in a large Chinese kindred and to offer genetic… 
2008
2008
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
The 5' members of the HoxD gene cluster (paralogous groups 9-13) are crucial for correct vertebrate limb patterning. Mutations in… 
2007
2007
Novel mutations of the HOXD13 gene in hand and foot malformations.
Homeobox genes encode a set of transcription factors of fundamental importance for body patterning during embryogenesis. Hoxa9… 
2003
2003
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations
HOXD13 is the most 5′ of the HOXD cluster of homeobox genes in chromosome band 2q31.1. Heterozygous expansions of a polyalanine… 
2002
2002
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD… 
1995
1995
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly… 
1995
1995
A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?
Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of… 
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