Fraser Syndrome is a rare genetic disorder that affects multiple parts of the body. It is characterized by various abnormalities, primarily involving the eyes, ears, and respiratory system. Individuals with Fraser Syndrome may have partial or complete absence of the eyelids, known as cryptophthalmos, which can lead to vision impairment. They may also have malformations of the ears, including hearing loss. Additionally, respiratory problems such as narrowing or blockage of the airways can occur.
Fraser Syndrome is caused by mutations in the FRAS1, FREM2, or GRIP1 genes, which are involved in the development of various tissues during embryonic growth. These mutations disrupt the normal formation of tissues and organs, leading to the characteristic features of the syndrome.
The severity of Fraser Syndrome can vary widely among affected individuals. Some may only have mild manifestations, while others may experience more severe complications. Treatment focuses on managing the specific symptoms and may involve surgical interventions to improve vision, hearing, or respiratory function.
It is important for individuals with Fraser Syndrome to receive comprehensive medical care and support from a multidisciplinary team of specialists to address their unique needs and optimize their quality of life.