Bowen-Conradi Syndrome

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Yang, C. Bowen-Conradi Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5010 (accessed on 22 September 2026).

Yang C. Bowen-Conradi Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5010. Accessed September 22, 2026.

Yang, Catherine. "Bowen-Conradi Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5010 (accessed September 22, 2026).

Yang, C. (2020, December 24). Bowen-Conradi Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5010

Yang, Catherine. "Bowen-Conradi Syndrome." Encyclopedia. Web. 24 December, 2020.

Bowen-Conradi Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bowen-conradi-syndrome

Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.

genetic conditions

References

Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, LiuS, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD,Zelinski T, Triggs-Raine B. Mutation of a gene essential for ribosome biogenesis,EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet. 2009 Jun;84(6):728-39. doi: 10.1016/j.ajhg.2009.04.017.
Armistead J, Patel N, Wu X, Hemming R, Chowdhury B, Basra GS, Del Bigio MR,Ding H, Triggs-Raine B. Growth arrest in the ribosomopathy, Bowen-Conradisyndrome, is due to dramatically reduced cell proliferation and a defect inmitotic progression. Biochim Biophys Acta. 2015 May;1852(5):1029-37. doi:10.1016/j.bbadis.2015.02.007.
Armistead J, Triggs-Raine B. Diverse diseases from a ubiquitous process: theribosomopathy paradox. FEBS Lett. 2014 May 2;588(9):1491-500. doi:10.1016/j.febslet.2014.03.024.
Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D,Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, WrogemannK, Fujiwara TM, Zelinski T. A locus for Bowen-Conradi syndrome maps to chromosomeregion 12p13.3. Am J Med Genet A. 2005 Jan 15;132A(2):136-43.
Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, ChodirkerB, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM. Bowen-Conradisyndrome: a clinical and genetic study. Am J Med Genet A. 2003 Jul30;120A(3):423-8.
Sondalle SB, Baserga SJ. Human diseases of the SSU processome. Biochim BiophysActa. 2014 Jun;1842(6):758-64. doi: 10.1016/j.bbadis.2013.11.004.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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