Anauxetic Dysplasia

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Yang, C. Anauxetic Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4720 (accessed on 27 September 2026).

Yang C. Anauxetic Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4720. Accessed September 27, 2026.

Yang, Catherine. "Anauxetic Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4720 (accessed September 27, 2026).

Yang, C. (2020, December 24). Anauxetic Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4720

Yang, Catherine. "Anauxetic Dysplasia." Encyclopedia. Web. 24 December, 2020.

Anauxetic Dysplasia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/anauxetic-dysplasia

Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder.

genetic conditions

References

Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A,Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild andsevere skeletal dysplasia. Clin Genet. 2017 Jul;92(1):91-98. doi:10.1111/cge.12964.
Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A. Furtherevidence of POP1 mutations as the cause of anauxetic dysplasia. Am J Med Genet A.2016 Sep;170(9):2462-5. doi: 10.1002/ajmg.a.37839.
Glazov EA, Zankl A, Donskoi M, Kenna TJ, Thomas GP, Clark GR, Duncan EL, BrownMA. Whole-exome re-sequencing in a family quartet identifies POP1 mutations asthe cause of a novel skeletal dysplasia. PLoS Genet. 2011 Mar;7(3):e1002027. doi:10.1371/journal.pgen.1002027.
Horn D, Rupprecht E, Kunze J, Spranger J. Anauxetic dysplasia, aspondylometaepiphyseal dysplasia with extreme dwarfism. J Med Genet. 2001Apr;38(4):262-5.
Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F,Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A. Severelyincapacitating mutations in patients with extreme short stature identifyRNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet. 2005 Nov;77(5):795-806.
Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRPfunctional impairment predicts phenotype in the cartilage hairhypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 Sep;81(3):519-29.
Thiel CT, Rauch A. The molecular basis of the cartilage-hairhypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab.2011 Feb;25(1):131-42. doi: 10.1016/j.beem.2010.08.004. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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