During my nursing career, I cared for a six month old infant who was diagnosed with Apert Syndrome. This was my first time hearing about the disorder. As I grew closer to the child, I learned more about his condition. This was a very sad case for me because the child was placed in foster care due to his family’s inability to complete the room in at the hospital. In this case, the child died because his trach came out. Anoxic brain injury was the result.
Description
Apert syndrome is a rare syndrome that occurs in utero, and is seen once the newborn is delivered. It is estimated that Apert Syndrome affects 1 out of 88,000 newborns.
“Apert syndrome- Genetic Home Reference” (n.d.) describes Apert syndrome as a genetic disorder characterized …show more content…
Mutations in the FGFR2 gene mapped to chromosome 10q25 and 10q26 causes Apert syndrome. Saritha, Sumangala, Supriya & Kumar (2013), explained that the protein causes prolonged signaling, which promote the premature fusion of bones and sutures of the skull, it also is responsible for fusion of hands and feet bones. Most cases of Apert syndrome occur from a new mutation in the gene. It can also occur in cases where there is no family history of the disorder. Individuals with Apert syndrome can pass the disorder to the next generation. “The recurrence risk for an unaffected parent of a child with Apert Syndrome is minor, but an affected person has a 50% risk of having a baby with the syndrome” (NIH 2016).Studies have shown that pregnancies with men over the age of forty have a higher risk of developing this disorder. There is no sexual predilectation ,but is more prevalent in Asians. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. According to Saritha et al.,(2013), a mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and …show more content…
Experts are unsure why the same gene mutation can result in such variation in a child's Apert syndrome prognosis” cite MED Life expectancy for a child with Apert Syndrome varies based on secondary complications that the child has. If a child with Apert Syndrome lives through their childhood, their life expectancy is near normal. Families with Apert syndrome can benefit from support groups, education resources,and financial resources. FACES: The National Craniofacial Association is an organization that helps families with locating treatment center, financial services, and support groups. It is important to inform parents that have a child with Apert syndrome of a fifty percent chance of delivering another child with this
Description
Apert syndrome is a rare syndrome that occurs in utero, and is seen once the newborn is delivered. It is estimated that Apert Syndrome affects 1 out of 88,000 newborns.
“Apert syndrome- Genetic Home Reference” (n.d.) describes Apert syndrome as a genetic disorder characterized …show more content…
Mutations in the FGFR2 gene mapped to chromosome 10q25 and 10q26 causes Apert syndrome. Saritha, Sumangala, Supriya & Kumar (2013), explained that the protein causes prolonged signaling, which promote the premature fusion of bones and sutures of the skull, it also is responsible for fusion of hands and feet bones. Most cases of Apert syndrome occur from a new mutation in the gene. It can also occur in cases where there is no family history of the disorder. Individuals with Apert syndrome can pass the disorder to the next generation. “The recurrence risk for an unaffected parent of a child with Apert Syndrome is minor, but an affected person has a 50% risk of having a baby with the syndrome” (NIH 2016).Studies have shown that pregnancies with men over the age of forty have a higher risk of developing this disorder. There is no sexual predilectation ,but is more prevalent in Asians. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. According to Saritha et al.,(2013), a mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and …show more content…
Experts are unsure why the same gene mutation can result in such variation in a child's Apert syndrome prognosis” cite MED Life expectancy for a child with Apert Syndrome varies based on secondary complications that the child has. If a child with Apert Syndrome lives through their childhood, their life expectancy is near normal. Families with Apert syndrome can benefit from support groups, education resources,and financial resources. FACES: The National Craniofacial Association is an organization that helps families with locating treatment center, financial services, and support groups. It is important to inform parents that have a child with Apert syndrome of a fifty percent chance of delivering another child with this