For our table clinic we decided to research Marden-Walker syndrome. Marden-Walker syndrome is a rare inherited connective tissue disorder (3). This disease involves the oral cavity, facial features and other body parts. This disorder has distinct facial features that can allow you to differientiate this disease from others. Marden-Walker syndrome is a very rare disease. It affects males more often then females (4). There have only been twenty reported cases of this disease (4). Specific sympotoms of Marden- Walker syndrome inlcude: a high arched palate or a cleft palate, a small receding jaw (microganthia), fixed bone joints and growth delay (3). Other symptoms include a mask-like narrowing of the eyes, low set ears, chronic shortening of
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It is thought that both of the parents carry a mutated gene that could be passed on to their child or possibly future generations that those children may have (4). If the child acquires one normal gene and one diseased gene from both their parents the child becomes a carrier of the gene, but could show no symptoms of having this disease (4). A carrier of a diseased gene does have a chance to pass this gene onto their future children (4). If both parents are carriers for the disease there is a 25% chance their child could be affected by the disease (4). The risk that the child will be a carrier of the diseased gene is 50% (4). It is thought that a single gene defect may be the cause of Marden-Walker syndrome (4). A mutation in the gene PIEZO2 has been found in some patients with this disease, but is still not a for sure cause of the disease (3). This recessive genetic disorder is very rare considering their have only been twenty cases reported (4). You must be able to differentiate this disease from others because some of the symptoms of Marden-Walker syndrome can resemble other diseases as well such as Schwartz- Jampel syndrome. This disease is also a rare disorder inherited as an autosomal recessive trait disorder that has similar characteristics such as: abnormal bone formation, abnormal eyes and face, short neck and hunchback
It is thought that both of the parents carry a mutated gene that could be passed on to their child or possibly future generations that those children may have (4). If the child acquires one normal gene and one diseased gene from both their parents the child becomes a carrier of the gene, but could show no symptoms of having this disease (4). A carrier of a diseased gene does have a chance to pass this gene onto their future children (4). If both parents are carriers for the disease there is a 25% chance their child could be affected by the disease (4). The risk that the child will be a carrier of the diseased gene is 50% (4). It is thought that a single gene defect may be the cause of Marden-Walker syndrome (4). A mutation in the gene PIEZO2 has been found in some patients with this disease, but is still not a for sure cause of the disease (3). This recessive genetic disorder is very rare considering their have only been twenty cases reported (4). You must be able to differentiate this disease from others because some of the symptoms of Marden-Walker syndrome can resemble other diseases as well such as Schwartz- Jampel syndrome. This disease is also a rare disorder inherited as an autosomal recessive trait disorder that has similar characteristics such as: abnormal bone formation, abnormal eyes and face, short neck and hunchback