E-ISSN 1658-8088 | ISSN 1658-807X
 

Review Article 


Frontonasal dysplasia: a review

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

Cited By: 3

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.

Key words: Frontonasal dysplasia, FND, ALX1, ALX3, ALX4.


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Muhammad Umair
Articles by Farooq Ahmad
Articles by Muhammad Bilal
Articles by Muhammad Arshad
on Google
on Google Scholar


This Article Cited By the following articles

Frontonasal dysplasia: A case report
Arch Craniofac Surg 2019; 20(6): 397.

1
 
Surgical Management of a Mild Case of Frontonasal Dysplasia: A Case Report and Review of Literature
2021; (): .

2
 
Multiple Cephalic Malformations in a Calf
Animals 2020; 10(9): 1532.

3
 
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: December 05, 2023]. 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 December 05, 2023]; 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





Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

  • Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]