Cornelia de Lange Syndrome
Introduction
Cornelia de Lange Syndrome is rare genetic disease it can affect multisystem disorder that has very serve intellectual disability starting at the time of 2nd trimester. The syndrome is often refer as also Brachmann de Lange syndrome or de Lange syndrome. Its most obvious symptoms are facial features such as body hair (hirsutism) with eyebrows that are arched and meet in midline (synophrys). This paper is inform the more detail about Cornelia de Lange Syndrome.
Pathophysiology
Cornelia de Lange Syndrome has been found that there is minimum of five genes. In order to have an development of birth of neonate is that all five genes need to play a role of having the group of protein structure and place the chromosomes control cells genetic information and fix there damaged …show more content…
Another common feature seen is Low pinna, cleft palate, and thin lips that point downward. Individual may present microcephaly, heart defects, seizures, low pitched cry, low birth weight, short stature and also gastro esophageal reflux, with reflux problem presented the child with have trouble feeding and low expectancy to thrive in life. Additional the syndrome there is to be seen behavioral with communication developmental delays those are some of the wide spectrum seen features with this syndrome. Most common mental disabilities found are with the IQ between 30 to 85, its study that they some are born with cleft palate that have difficult speaking and having speech delay than there peers and hearing loss. People with Cornelia de Lange syndrome have a number of behavioral problems like self injury to themselves head banging, hand biting). It’s shown that the presence of autistic syndrome is to be shown due to the reason of not being able to understand other individuals due to poor
Introduction
Cornelia de Lange Syndrome is rare genetic disease it can affect multisystem disorder that has very serve intellectual disability starting at the time of 2nd trimester. The syndrome is often refer as also Brachmann de Lange syndrome or de Lange syndrome. Its most obvious symptoms are facial features such as body hair (hirsutism) with eyebrows that are arched and meet in midline (synophrys). This paper is inform the more detail about Cornelia de Lange Syndrome.
Pathophysiology
Cornelia de Lange Syndrome has been found that there is minimum of five genes. In order to have an development of birth of neonate is that all five genes need to play a role of having the group of protein structure and place the chromosomes control cells genetic information and fix there damaged …show more content…
Another common feature seen is Low pinna, cleft palate, and thin lips that point downward. Individual may present microcephaly, heart defects, seizures, low pitched cry, low birth weight, short stature and also gastro esophageal reflux, with reflux problem presented the child with have trouble feeding and low expectancy to thrive in life. Additional the syndrome there is to be seen behavioral with communication developmental delays those are some of the wide spectrum seen features with this syndrome. Most common mental disabilities found are with the IQ between 30 to 85, its study that they some are born with cleft palate that have difficult speaking and having speech delay than there peers and hearing loss. People with Cornelia de Lange syndrome have a number of behavioral problems like self injury to themselves head banging, hand biting). It’s shown that the presence of autistic syndrome is to be shown due to the reason of not being able to understand other individuals due to poor