Postaxial polydactyly

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~~Post-axial~~Postaxial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5^th(little) toe.

Epidemiology

~~Post-axial~~Postaxial polydactyly is more common than preaxial polydactyly, with an estimated incidence of 1 in 3000 ⁵.

Associations

~~Post-axial~~Postaxial polydactyly can be associated with:

trisomy 13
Bardet-Biedl syndrome
Meckel Gruber syndrome
McKusick-Kaufman syndrome
following oral-facial-digital syndromes (OFDS)
- oral-facial-digital syndrome (OFDS) type II - Mohr syndrome
- oral-facial-digital syndrome (OFDS) type VI
certain skeletal dysplasias
- chondroectodermal dysplasia - Ellis-van Creveld syndrome
- asphyxiating thoracic dysplasia - Jeune syndrome
Smith Lemli Opitz syndrome
certain short rib polydactyly syndromes: e.g types I and III

Pathology

The majority of cases are idiopathic. Associations with mutations to the GLI3 gene on chromosome 7 as well as a second locus mapped to chromosome 13 have been implicated in ~~post-axial~~postaxial polydactyly ⁵.

Classification

~~Post-axial~~Postaxial polydactyly has been defined by Temtamy and McKusick as:

type A: additional digit at the MCP joint (or more proximally at the CMC joint)
type B: small nubbin of non-functioning tissue or additional soft tissue on a pedicle

Or, you can use a separate three-part classification system:

type I: nubbin or floating digit
type II: duplications at the MCPJ
type III: duplication of the entire ray

-<p><strong>Post-axial polydactyly</strong> refers to <a href="/articles/polydactyly">polydactyly</a> where the additional digit is on the ulnar margin of the hand, or lateral to the 5<sup>th </sup>(little) toe.</p><h4>Epidemiology</h4><p>Post-axial polydactyly is more common than <a href="/articles/preaxial-polydactyly">preaxial polydactyly</a>, with an estimated incidence of 1 in 3000 <sup>5</sup>.</p><h5>Associations</h5><p>Post-axial polydactyly can be associated with:</p><ul>
+<p><strong>Postaxial polydactyly</strong> refers to <a href="/articles/polydactyly">polydactyly</a> where the additional digit is on the ulnar margin of the hand, or lateral to the 5<sup>th </sup>(little) toe.</p><h4>Epidemiology</h4><p>Postaxial polydactyly is more common than <a href="/articles/preaxial-polydactyly">preaxial polydactyly</a>, with an estimated incidence of 1 in 3000 <sup>5</sup>.</p><h5>Associations</h5><p>Postaxial polydactyly can be associated with:</p><ul>
-</ul><h4>Pathology</h4><p>The majority of cases are idiopathic. Associations with mutations to the <em>GLI3 </em>gene on chromosome 7 as well as a second locus mapped to chromosome 13 have been implicated in post-axial polydactyly <sup>5</sup>.</p><h5>Classification</h5><p><a href="/articles/pre-axial-and-post-axial-borders">Post-axial</a> polydactyly has been defined by Temtamy and McKusick as:</p><ul>
+</ul><h4>Pathology</h4><p>The majority of cases are idiopathic. Associations with mutations to the <em>GLI3 </em>gene on chromosome 7 as well as a second locus mapped to chromosome 13 have been implicated in postaxial polydactyly <sup>5</sup>.</p><h5>Classification</h5><p><a href="/articles/pre-axial-and-post-axial-borders">Postaxial</a> polydactyly has been defined by Temtamy and McKusick as:</p><ul>

References changed:

1. Tore H, McKinney A, Nagar V, Lohman B, Truwit C, Raybaud C. Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings. AJNR Am J Neuroradiol. 2009;30(8):1620-2. <a href="https://doi.org/10.3174/ajnr.A1566">doi:10.3174/ajnr.A1566</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/19369601">Pubmed</a>
2. Bowerman R. Anomalies of the Fetal Skeleton: Sonographic Findings. AJR Am J Roentgenol. 1995;164(4):973-9. <a href="https://doi.org/10.2214/ajr.164.4.7726060">doi:10.2214/ajr.164.4.7726060</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/7726060">Pubmed</a>
3. Son S, Kim Y, Kim E et al. A Case of McKusick-Kaufman Syndrome. Korean J Pediatr. 2011;54(5):219-23. <a href="https://doi.org/10.3345/kjp.2011.54.5.219">doi:10.3345/kjp.2011.54.5.219</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/21829414">Pubmed</a>
4. Poretti A, Brehmer U, Scheer I, Bernet V, Boltshauser E. Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI. AJNR Am J Neuroradiol. 2008;29(6):1090-1. <a href="https://doi.org/10.3174/ajnr.A1038">doi:10.3174/ajnr.A1038</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/18356465">Pubmed</a>
5. Zhao H, Tian Y, Breedveld G et al. Postaxial Polydactyly Type A/B (PAP-A/B) is Linked to Chromosome 19p13.1-13.2 in a Chinese Kindred. Eur J Hum Genet. 2002;10(3):162-6. <a href="https://doi.org/10.1038/sj.ejhg.5200790">doi:10.1038/sj.ejhg.5200790</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/11973619">Pubmed</a>
1. Tore HG, Mckinney AM, Nagar VA et-al. Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. AJNR Am J Neuroradiol. 2009;30 (8): 1620-2. <a href="http://dx.doi.org/10.3174/ajnr.A1566">doi:10.3174/ajnr.A1566</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/19369601">Pubmed citation</a><div class="ref_v2"></div>
2. Bowerman RA. Anomalies of the fetal skeleton: sonographic findings. AJR Am J Roentgenol. 1995;164 (4): 973-9. <a href="http://www.ajronline.org/cgi/content/abstract/164/4/973">AJR Am J Roentgenol (abstract)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/7726060">Pubmed citation</a><div class="ref_v2"></div>
3. Son SH, Kim YJ, Kim ES et-al. A case of McKusick-Kaufman syndrome. Korean J Pediatr. 2011;54 (5): 219-23. <a href="http://dx.doi.org/10.3345/kjp.2011.54.5.219">doi:10.3345/kjp.2011.54.5.219</a> - <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145907">Free text at pubmed</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/21829414">Pubmed citation</a><div class="ref_v2"></div>
4. Poretti A, Brehmer U, Scheer I et-al. Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. AJNR Am J Neuroradiol. 2008;29 (6): 1090-1. <a href="http://dx.doi.org/10.3174/ajnr.A1038">doi:10.3174/ajnr.A1038</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/18356465">Pubmed citation</a><div class="ref_v2"></div>
5. Hongshan Zhao, Yong Tian, Guido Breedveld, Shangzhi Huang, Ying Zou, Jue Y, Jinghua Chai, Hui Li, Mingyue Li, Ben A Oostra, Wilson H Y Lo, Peter Heutink. Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a chinese kindred. (2002) European Journal of Human Genetics. 10 (3): 162. <a href="https://doi.org/10.1038/sj.ejhg.5200790">doi:10.1038/sj.ejhg.5200790</a> <span class="ref_v4"></span>

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