Final answer:
The genetic disease caused by a mutation in FGFR2, leading to cranial, facial, and limb malformations, is known as Apert syndrome, an autosomal dominant genetic disorder.
Step-by-step explanation:
The disease caused by a mutation in the gene coding for fibroblast growth factor receptor 2 (FGFR2) and is characterized by premature fission of the joints in the skull, facial malformations, and fusion of the fingers and toes is known as Apert syndrome. This condition is a result of an autosomal dominant mutation. Apert syndrome is a type of genetic disorder wherein a single gene mutation can have significant physical effects. Genetic disorders like Apert syndrome, Marfan syndrome, and cancer can have profound implications for the health and development of an individual.
Apert syndrome is a genetic disorder caused by a mutation in the gene encoding fibroblast growth factor receptor 2 (FGFR2). This condition is characterized by premature fusion of the skull joints, leading to abnormal head shape, facial malformations, and syndactyly (fusion) of fingers and toes. Apert syndrome follows an autosomal dominant pattern, meaning that an affected individual inherits one mutated copy of the FGFR2 gene from either parent, leading to significant physical abnormalities.
Genetic disorders like Apert syndrome exemplify the impact of single gene mutations on an individual's health and development. Conditions such as Apert syndrome, Marfan syndrome, and certain types of cancer highlight the diverse range of genetic disorders that can affect various aspects of physiological development and function. Understanding the genetic basis of these disorders is crucial for early diagnosis, intervention, and management to improve the quality of life for affected individuals.