Review Article
Volume: 1 | Issue: 2 | Published: Nov 30, 2018 | Pages: 66 - 76 | DOI: 10.24911/JBCGenetics/183-1530765389
Frontonasal dysplasia: a review
Authors:
Muhammad Umair
, Farooq Ahmad
, Muhammad Bilal
, Muhammad Arshad
Article Info
Authors
Muhammad Umair
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Farooq Ahmad
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Muhammad Bilal
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Muhammad Arshad
Department of Bioinformatics & Biotechnology, International Islamic University, Islamabad, Pakistan
Publication History
Received: March 23, 2018
Accepted: May 12, 2018
Published: November 30, 2018
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
Pubmed Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad. Frontonasal dysplasia: a review. JBC Genetics. 2018; 30 (November 2018): 66-76. doi:10.24911/JBCGenetics/183-1530765389
Web Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad. Frontonasal dysplasia: a review. https://jbcgenetics.com/articles/2114 [Access: June 02, 2025]. doi:10.24911/JBCGenetics/183-1530765389
AMA (American Medical Association) Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad. Frontonasal dysplasia: a review. JBC Genetics. 2018; 30 (November 2018): 66-76. doi:10.24911/JBCGenetics/183-1530765389
Vancouver/ICMJE Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad. Frontonasal dysplasia: a review. JBC Genetics. (2018), [cited June 02, 2025]; 30 (November 2018): 66-76. doi:10.24911/JBCGenetics/183-1530765389
Harvard Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad (2018) Frontonasal dysplasia: a review. JBC Genetics, 30 (November 2018): 66-76. doi:10.24911/JBCGenetics/183-1530765389
Chicago Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad. "Frontonasal dysplasia: a review." 30 (2018), 66-76. doi:10.24911/JBCGenetics/183-1530765389
MLA (The Modern Language Association) Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad. "Frontonasal dysplasia: a review." 30.November 2018 (2018), 66-76. Print. doi:10.24911/JBCGenetics/183-1530765389
APA (American Psychological Association) Style
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad (2018) Frontonasal dysplasia: a review. , 30 (November 2018), 66-76. doi:10.24911/JBCGenetics/183-1530765389