15q26 overgrowth syndrome
What is Tetrasomy 15q26 overgrowth syndrome?
15q26 overgrowth syndrome is a rare genetic condition caused by extra genetic material in the body. Common symptoms of 15q26 overgrowth syndrome are a characteristic facial appearance, severe intellectual disability, craniosynostosis, and a unique appearance of the fingers. Craniosynostosis is a birth defect that happens when the bones of a baby's skull grow together, or fuse, earlier that they should. This causes the head to be misshapen and does not allow the brain to grow into its normal shape. Other symptoms of 15q26 overgrowth syndrome include kidney problems, spine abnormalities, overgrowth, heart defects and hearing loss. 15q26 overgrowth syndrome can also be called Tetrasomy 15q26 overgrowth syndrome or Levy-Shanske syndrome.
The best type of doctor to figure out if someone has 15q26 overgrowth 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".
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Xu H, Xiao B, Ji X, Hu Q, Chen Y, Qiu W. Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature. European Journal of Medical Genetics. 2014 Jul;57(7):329-33.
"Tetrasomy 15q26." Online Mendelian Inheritance in Man. 2 Oct 2012. Web. 14 June 2016. http://www.omim.org/entry/614846