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 DNA. This in forces the cohesion complex to turn on genes and guide the process of making the body with no abnormalities to the limbs, face and the entire body. Study’s show that CDLS has been linked to mutations with SMC3,RAD21,HDAC8,SMC1A,NIPBL in generally it results from mutations in the NIPBL gene. The disorder can has been study that it can be different in individuals with the almost the same gene mutation. CDLS SMC1A SMC3 and SMC3 gene mutations are show to cause milder signs and symptoms than NIPBL gene. They additional have noticed that HDAC8 gene will cause different symptoms of delayed closure of soft spot suture with widely spaced eyes and dental abnormalities but with gene mutations NIPBL are to be seen with intellectual disability. Its been found to be inherited but there ha been cases where its being caused by new mutations. Prevalence of Cornelia de Lange Syndrome is to affect 1 in 10,0000 to 30,0000 newborns but there might be a possibility of more people with the condition but since they don’t have obvious symptoms it goes unrecognized. Cornelia de Lange Syndrome is diagnosed by genetic testing. With all the studies that have been done the cause for CDLS is unknown for 30% of people diagnose with it. Researchers are still looking at why five know genes and mutations ones are causing this condition. Clinical manifestations Describing a individuals with Cornelia de Lange syndrome is present at birth and symptoms vary but some characters are abnormal hands and hearing impairment. …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 communication.
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 DNA. This in forces the cohesion complex to turn on genes and guide the process of making the body with no abnormalities to the limbs, face and the entire body. Study’s show that CDLS has been linked to mutations with SMC3,RAD21,HDAC8,SMC1A,NIPBL in generally it results from mutations in the NIPBL gene. The disorder can has been study that it can be different in individuals with the almost the same gene mutation. CDLS SMC1A SMC3 and SMC3 gene mutations are show to cause milder signs and symptoms than NIPBL gene. They additional have noticed that HDAC8 gene will cause different symptoms of delayed closure of soft spot suture with widely spaced eyes and dental abnormalities but with gene mutations NIPBL are to be seen with intellectual disability. Its been found to be inherited but there ha been cases where its being caused by new mutations. Prevalence of Cornelia de Lange Syndrome is to affect 1 in 10,0000 to 30,0000 newborns but there might be a possibility of more people with the condition but since they don’t have obvious symptoms it goes unrecognized. Cornelia de Lange Syndrome is diagnosed by genetic testing. With all the studies that have been done the cause for CDLS is unknown for 30% of people diagnose with it. Researchers are still looking at why five know genes and mutations ones are causing this condition. Clinical manifestations Describing a individuals with Cornelia de Lange syndrome is present at birth and symptoms vary but some characters are abnormal hands and hearing impairment. …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 communication.