Difference between revisions of "Juvenile polyposis syndrome"

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It is characterized by ([[hamartomatous]]) [[juvenile polyps]].  
It is characterized by ([[hamartomatous]]) [[juvenile polyps]].  


Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get [[colorectal carcinoma]].<ref name=pmid20301642>{{Cite journal  | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = | volume =  | issue =  | pages =  | month =  | year =  | doi =  | PMID = 20301642 }}</ref>
Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get [[colorectal carcinoma]].<ref name=pmid20301642>{{Cite journal  | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = '' | volume =  | issue =  | pages =  | month =  | year =  | doi =  | PMID = 20301642 }}</ref>


Note:
Note:
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==Criteria for Dx of JPS==
==Criteria for Dx of JPS==
One of the following:<ref name=pmid20301642>{{Cite journal  | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = | volume =  | issue =  | pages =  | month =  | year =  | doi =  | PMID = 20301642 }}</ref>
One of the following:<ref name=pmid20301642>{{Cite journal  | last1 = Pagon | first1 = RA. | last2 = Bird | first2 = TD. | last3 = Dolan | first3 = CR. | last4 = Stephens | first4 = K. | last5 = Larsen Haidle | first5 = J. | last6 = Howe | first6 = JR. | title = Juvenile Polyposis Syndrome | journal = '' | volume =  | issue =  | pages =  | month =  | year =  | doi =  | PMID = 20301642 }}</ref>
#Five juvenile polyps in the colorectum.
#Five juvenile polyps in the colorectum.
#"Multiple" juvenile polyps through-out GI tract.  
#"Multiple" juvenile polyps through-out GI tract.  
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*[[Gastrointestinal polyps]].
*[[Gastrointestinal polyps]].
*[[Peutz-Jeghers syndrome]].
*[[Peutz-Jeghers syndrome]].
*[[Intestinal polyposis]].


==References==
==References==
{{Reflist|1}}
{{Reflist|2}}


[[Category:Syndromes]]
[[Category:Syndromes]]

Latest revision as of 16:23, 4 November 2012

Juvenile polyposis syndrome, abbreviated JPS, is an autosomal dominant inherited condition due to a mutation in SMAD4[1] or BMPR1A.[2]

General

It is characterized by (hamartomatous) juvenile polyps.

Individuals with JPS have an increased risk of gastrointestinal cancer. Classically, individuals with JPS get colorectal carcinoma.[3]

Note:

Criteria for Dx of JPS

One of the following:[3]

  1. Five juvenile polyps in the colorectum.
  2. "Multiple" juvenile polyps through-out GI tract.
  3. Juvenile polyp + family history of JPS.

Note:

  • "Multiple" is not defined.

See also

References

  1. 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 600993
  2. Online 'Mendelian Inheritance in Man' (OMIM) 601299
  3. 3.0 3.1 Pagon, RA.; Bird, TD.; Dolan, CR.; Stephens, K.; Larsen Haidle, J.; Howe, JR.. "Juvenile Polyposis Syndrome". . PMID 20301642.