Frontonasal dysplasia: a review
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 (FN...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2018-12-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=302642871 |
| _version_ | 1797817495290118144 |
|---|---|
| author | Muhammad Umair Farooq Ahmad Muhammad Bilal Muhammad Arshad |
| author_facet | Muhammad Umair Farooq Ahmad Muhammad Bilal Muhammad Arshad |
| author_sort | Muhammad Umair |
| collection | DOAJ |
| description | 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. [JBCGenetics 2018; 1(2.000): 66-76] |
| first_indexed | 2024-03-13T08:54:18Z |
| format | Article |
| id | doaj.art-63d0c98e87a54e82b3214400ec0a0ee7 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:54:18Z |
| publishDate | 2018-12-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-63d0c98e87a54e82b3214400ec0a0ee72023-05-29T05:16:19ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2018-12-0112667610.24911/JBCGenetics/183-1530765389302642871Frontonasal dysplasia: a reviewMuhammad Umair0Farooq Ahmad1Muhammad Bilal2Muhammad Arshad3Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan Department of Bioinformatics & Biotechnology, International Islamic University, Islamabad, PakistanFrontonasal 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. [JBCGenetics 2018; 1(2.000): 66-76]http://www.ejmanager.com/fulltextpdf.php?mno=302642871frontonasal dysplasiafndalx1alx3alx4 |
| spellingShingle | Muhammad Umair Farooq Ahmad Muhammad Bilal Muhammad Arshad Frontonasal dysplasia: a review Journal of Biochemical and Clinical Genetics frontonasal dysplasia fnd alx1 alx3 alx4 |
| title | Frontonasal dysplasia: a review |
| title_full | Frontonasal dysplasia: a review |
| title_fullStr | Frontonasal dysplasia: a review |
| title_full_unstemmed | Frontonasal dysplasia: a review |
| title_short | Frontonasal dysplasia: a review |
| title_sort | frontonasal dysplasia a review |
| topic | frontonasal dysplasia fnd alx1 alx3 alx4 |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=302642871 |
| work_keys_str_mv | AT muhammadumair frontonasaldysplasiaareview AT farooqahmad frontonasaldysplasiaareview AT muhammadbilal frontonasaldysplasiaareview AT muhammadarshad frontonasaldysplasiaareview |