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Cleft Lip And Palate Essay

800 words - 4 pages

Cleft lip and/or palate is a condition where the tissue of the lip did not completely close during embryotic formation that affects 1 in 700 people born. Though not immediately fatal, the disorder can cause complications with consuming and speech that could lead to more serious problems. The only way to fix the gap is to surgically go in and sew the two sides of the lip/palate together; this is a comparable easier and faster solution than other solutions out there for different disorders. Many people who get the surgery recover fine, have slight physical differences, and are able to succeed in society like anyone else (condition does not hinder mental state or ability drastically). This condition has many different phenotypes that fall in two categories, unilateral cleft and bilateral cleft (Dixon et al., 2011). In a unilateral cleft, only one side of the palate or lip is affected (asymmetrical) while in a bilateral cleft, both sides are affected usually in a symmetric pattern. Because of the large range of phenotypes, it is very difficult to trace back to certain genes and factors and figure out how these factors together influence the expression of the trait.
Cleft lip and/or palate can be expressed by itself, called non-syndromic, or with other conditions including Kabuki syndrome, called syndromic (Dixon et al., 2011). Depending on the type of disorder, this condition is caused by different chromosomes and mutations on these chromosomes. For example, if it is indeed expressed with other symptoms of Kabuki syndrome like longer eyelids and abnormal joints, then the KMT2D gene is responsible for the cleft palate (“Kabuki Syndrome,” 2014). The KMT2D gene is responsible for activating different parts of genes through histones and is linked with this syndrome; it is not linked with other syndromes that also cause cleft lip and/or palate. In non-syndromic cleft lip and/or palate conditions, possible genes have been identified but not finalized. One example of a possible gene is TGFA (transforming growth factor, alpha), which is responsible for starting a signal pathway for cell development. A mutation in this gene can cause it to not act like it normally does as a ligand and may hinder/prevent the signal process. A lack of developed cells in the oral region can cause there to be a hole. This particular gene was studied in mice and results from syndromic cleft lip and/or palate studies...

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