Genetic Test
ALX1 (ALX Homeobox 1) is a gene encoding a homeoprotein involved in cellular development and pattern formation. It is specifically associated with cartilage formation and has been linked to limb development and atrial septal dysplasia. This genetic test targets one specific gene variant related to frontonasal dysplasia.
Disease Description
Frontonasal dysplasia is a genetic disorder characterized by facial deformities. Due to mutations in the ALX1 gene, which is crucial for proper cellular development and cartilage formation, the medial nasal prominence does not form correctly. This condition typically leads to severe complications, such as brain and eye abnormalities, making survival difficult.
