Review Article
JBCGenetics. 2018; 1(2): 66-76

Frontonasal dysplasia: a review

Authors: Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1530765389

Abstract

Frontonasal dysplasia (FND) is a rare complex genetic facial malformation, mostly characterized by affecting the face and head regions of the body. Craniofacial defects can have a severe impact, revealing different types of clinical phenotypes, which are broadly grouped as frontonasal dysplasias (FNDs). FNDs have been classified along with selected disorders on the genetic and molecular basis. FND is clinically diagnosed on the basis of at least two features including median facial cleft, broad nasal bridge, ocular hypertelorism, widened philtrum, median cleft upper lip, widow's peak frontal hairline and missing or underdeveloped nasal tip. The three types of FNDs are caused by the ALX genes (ALX1, ALX3, ALX4). Genes and pathways related to facial development are associated with direct or indirect expression of the FGF8, the SHH, and the BMP4. The present review provides a detail literature review on the FND phenotypes and mutation update of different genes involved that will help in proper classification, genetic counseling, and diagnosis of the affected families.

Keywords:   Frontonasal dysplasia, FND, ALX1, ALX3, ALX4.


Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@jbcgenetics.com.

Copyright ©2018. All Rights Reserved.

Frontonasal dysplasia: a review


Authors
Muhammad Umair
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
PubMed articlesGoogle scholar articles

Farooq Ahmad
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
PubMed articlesGoogle scholar articles

Muhammad Bilal
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
PubMed articlesGoogle scholar articles

Muhammad Arshad
Department of Bioinformatics & Biotechnology, International Islamic University, Islamabad, Pakistan
PubMed articlesGoogle scholar articles


Correspondence to:
Muhammad Umair. Muhammad Umair, Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; khugoo4u@yahoo.com

Publication history
Published online 01 Jan 1970
Received 09 Jul 2018
Revised 01 Sep 2018
Accepted 02 Sep 2018
Published in print 09 Mar 2019

How to cite this article

Pubmed Style

Umair M, Ahmad F, Bilal M, Arshad M. Frontonasal dysplasia: a review. JBCGenetics. 2018; 1(2): 66-76. doi:10.24911/JBCGenetics/183-1530765389


Web Style

Umair M, Ahmad F, Bilal M, Arshad M. Frontonasal dysplasia: a review. https://www.jbcgenetics.com//?mno=302642871 [Access: August 23, 2019]. doi:10.24911/JBCGenetics/183-1530765389


AMA (American Medical Association) Style

Umair M, Ahmad F, Bilal M, Arshad M. Frontonasal dysplasia: a review. JBCGenetics. 2018; 1(2): 66-76. doi:10.24911/JBCGenetics/183-1530765389


Vancouver/ICMJE Style

Umair M, Ahmad F, Bilal M, Arshad M. Frontonasal dysplasia: a review. JBCGenetics. (2018), [cited August 23, 2019]; 1(2): 66-76. doi:10.24911/JBCGenetics/183-1530765389


Harvard Style

Umair, M., Ahmad, . F., Bilal, . M. & Arshad, . M. (2018) Frontonasal dysplasia: a review. JBCGenetics, 1 (2), 66-76. doi:10.24911/JBCGenetics/183-1530765389


Turabian Style

Umair, Muhammad, Farooq Ahmad, Muhammad Bilal, and Muhammad Arshad. 2018. Frontonasal dysplasia: a review. Journal of Biochemical and Clinical Genetics, 1 (2), 66-76. doi:10.24911/JBCGenetics/183-1530765389


Chicago Style

Umair, Muhammad, Farooq Ahmad, Muhammad Bilal, and Muhammad Arshad. "Frontonasal dysplasia: a review." Journal of Biochemical and Clinical Genetics 1 (2018), 66-76. doi:10.24911/JBCGenetics/183-1530765389


MLA (The Modern Language Association) Style

Umair, Muhammad, Farooq Ahmad, Muhammad Bilal, and Muhammad Arshad. "Frontonasal dysplasia: a review." Journal of Biochemical and Clinical Genetics 1.2 (2018), 66-76. Print. doi:10.24911/JBCGenetics/183-1530765389


APA (American Psychological Association) Style

Umair, M., Ahmad, . F., Bilal, . M. & Arshad, . M. (2018) Frontonasal dysplasia: a review. Journal of Biochemical and Clinical Genetics, 1 (2), 66-76. doi:10.24911/JBCGenetics/183-1530765389


Click the icon of the social media platform on which you would like to share this article.

Viewed: 1221
Downloaded: 236
Cited: 0