This website provides information on individuals with mutations in the ALX1 gene, including clinical data, molecular data, management and research options.
ALX1 (OMIM #601527) encodes Aristaless-like homeobox 1 protein and is involved in the regulation of embryonic craniofacial development as a homeobox class transcription factor. Mutations affecting both alleles of ALX1 cause ALX1-related frontonasal dysplasia (frontonasal dysplasia type 3, FND3, OMIM #613456).
ALX1-related frontonasal dysplasia, is an autosomal recessive disorder which is characterized by craniofacial anomalies. These anomalies affect the midface and embryonic fusion of midface structures. Its findings can range from marked hypertelorism to severe facial clefts and can also include microphtalmia, midline cranial bone defects and vestigial tail.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with mutations in the ALX1 gene.
Nurten Akarsu, MD, PhD, Department of Medical Genetics, Hacettepe University Medical Faculty, Ankara, Turkey, email@example.com
Arda Çetinkaya, MD, PhD, Department of Medical Genetics, Zeynep Kamil Women and Children's Hospital, Istanbul, Turkey, firstname.lastname@example.org