SHORT Syndrome

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Tang, P. SHORT Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/6065 (accessed on 20 September 2026).

Tang P. SHORT Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/6065. Accessed September 20, 2026.

Tang, Peter. "SHORT Syndrome" Encyclopedia, https://encyclopedia.pub/entry/6065 (accessed September 20, 2026).

Tang, P. (2021, January 04). SHORT Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/6065

Tang, Peter. "SHORT Syndrome." Encyclopedia. Web. 04 January, 2021.

SHORT Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay

Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body.

genetic conditions

References

Chudasama KK, Winnay J, Johansson S, Claudi T, König R, Haldorsen I, JohanssonB, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njølstad PR. SHORT syndromewith partial lipodystrophy due to impaired phosphatidylinositol 3 kinasesignaling. Am J Hum Genet. 2013 Jul 11;93(1):150-7. doi:10.1016/j.ajhg.2013.05.023.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L,Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ,Vanstone MR, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE,O'Driscoll M, Boycott KM, Innes AM. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005.
Koenig R, Brendel L, Fuchs S. SHORT syndrome. Clin Dysmorphol. 2003Jan;12(1):45-9. Review.
Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S,Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014Sep;86(3):292-4. doi: 10.1111/cge.12263.
Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S,Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, FagourC, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Rivière JB.PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J HumGenet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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