15q26 overgrowth syndrome

Overview

Are there any other diseases that look a lot like 15q26 overgrowth syndrome?

15q26 overgrowth syndrome is similar to Shprintzen-Goldberg syndrome and Loeys-Dietz syndrome. All three conditions can cause overgrowth. Other similarities include irregularly shaped skulls, small chins, long and slender fingers, and intellectual disability.

The best type of doctor to figure out if someone has 15q26 syndrome or another disorder, like Shprintzen-Goldberg syndrome or Loeys-Dietz syndrome, is a medical geneticist (a doctor specially trained to diagnose and treat genetic conditions). Medical geneticists can be found by asking for recommendations from your regular doctor, or by using the American College of Medical Genetics' Clinic Services Search Engine. In the "search by genetic service type(s)" heading, choose "General Genetic Services" from the "Clinic Service Type" drop down menu, and check the "General Genetics" box under "Clinic Services". If a child will be meeting with the geneticist, you may want to check the "Pediatric Genetics" box under "Clinic Services".

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/15q26-overgrowth-syndrome/overview/6929 • DATE UPDATED: 2016-06-14

References

Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Ferederick B, Hirschhorn K, Warburton P, Shanske A. "Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?" Genetics in Medicine 2012. 14(9):811-818.

“Tetrasomy 15q26.” Online Mendelian Inheritance in Man. 2 Oct 2012. Web. 14 June 2016. http://www.omim.org/entry/614846

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