short essay

Based on 1, finish question 2. you can just write about 150 words for question2, but i need it as soon as possible.

1. Description of the medical device and its intended use (disease, disorder, symptomsetc.) and patient statistics (U.S. and Worldwide) (3 points):  

Amelia syndrome is a disease characterized by the complete absence of a skeletal limb during infancy or even neonatal stages. The condition can appear as an isolated defect or as anomalies in the kidneys, craniofacial system, central nervous system, or cardiopulmonary system. Tetra-amelia is a more severe form of the disease in which all four extremities of the patient are absent.

Amelia is caused by a combination of factors. Teratogens, such as alcohol and vascular compromises, may be associated with the disease but are not always the cause. Amelia appears to be a sporadic occurrence, but it is clear that mutations in the WNT3 gene are linked to the disease. During embryonic development, the WNT3 gene produces a protein that is directly involved in the formation of skeletal limbs as well as other bodily systems such as the cardiopulmonary and nervous systems [1]. Mutations in the WNT3 gene prevent cells from producing the functional protein, causing limb formation to be disrupted [2]. WNT3 mutations can result in other serious birth defects.

Amelia, as previously stated, is a rare condition with a global prevalence of 1.41 per 100,000 births. Because of the severity of the disease, infants with amelia usually die soon after birth or are stillborn [2]. The number of Amelia patients who live or die is unknown. The majority of patients with the disease are of Middle Eastern descent, typically of Arab, Moroccan, or Syrian-Aramaic ethnicity [2]. Tetra-Amelia, an even rarer form of Amelia, has a global prevalence of about 1 in 1,000,000 births [2].

 
1-Niemann, S., Zhao, C., Pascu, F., Stahl, U., Aulepp, U., Niswander, L., Weber, J. L., & Mller, U. (2004). Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. American journal of human genetics, 74(3), 558563. https://doi.org/10.1086/382196
 
2- Genetic and Rare Diseases Information Center (GARD). 2016. Tetra-Amelia Syndrome. Retrieved September 24, 2020, from 
https://rarediseases.info.nih.gov/diseases/5148/tetra-amelia-syndrome

2. Description of the limitations of the medical device and state of the art approaches (if any) (3 points)