Submitted Successfully!
Thank you for your contribution! You can also upload a video entry related to this topic through the link below:
https://encyclopedia.pub/user/video_add?id=5010
Check Note
2000/2000
Ver. Summary Created by Modification Content Size Created at Operation
1 + 453 word(s) 453 2020-12-15 07:17:54

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
Information
Contributor :
View Times: 116
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Time: 24 Dec 2020

1. Introduction

Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism).

Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.

2. Frequency

Bowen-Conradi syndrome is common in the Hutterite population in Canada and the United States; it occurs in approximately 1 per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside the Hutterite community with signs and symptoms similar to Bowen-Conradi syndrome have been described in the medical literature. Researchers differ as to whether these individuals have Bowen-Conradi syndrome or a similar but distinct disorder.

3. Causes

Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the nucleolus.

The particular EMG1 gene mutation known to cause Bowen-Conradi syndrome is thought to make the protein unstable, resulting in a decrease in the amount of EMG1 protein that is available in the nucleolus. A shortage of this protein in the nucleolus would impair ribosome production, which may reduce cell growth and division (proliferation); however, it is unknown how EMG1 gene mutations lead to the particular signs and symptoms of Bowen-Conradi syndrome.

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

  • Bowen Hutterite syndrome
  • Bowen syndrome, Hutterite type
  • Bowen-Conradi Hutterite syndrome
  • BWCNS
  • Hutterite syndrome

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
More
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
View Times: 116
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Time: 24 Dec 2020
Table of Contents
    1000/1000

    Confirm

    Are you sure to Delete?

    Video Upload Options

    Do you have a full video?
    Cite
    If you have any further questions, please contact Encyclopedia Editorial Office.
    Yang, C. Bowen-Conradi Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5010 (accessed on 03 October 2022).
    Yang C. Bowen-Conradi Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5010. Accessed October 03, 2022.
    Yang, Catherine. "Bowen-Conradi Syndrome," Encyclopedia, https://encyclopedia.pub/entry/5010 (accessed October 03, 2022).
    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.
    Top
    Feedback