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Beckwith Wiedemann syndrome

Learner1

Learner1

Senior Member
Messages
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Location
Pacific Northwest
Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults. Symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia), omphalocele or other abdominal wall defect at birth, low blood sugar (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal organs, creases or pits in the skin near the ears, and kidney abnormalities. Affected children have an increased risk to develop tumors, particularly a rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma.[1][2][3] Some people only have one symptom while others may have many of the symptoms.[2]

The cause of BWS is complex and is different for different people, but involves genes that control body growth. The genes, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes, are located on chromosome 11.


Not sure why you're asking about methylation genes in relation to this.
 
Methyl90

Methyl90

Senior Member
Messages
273
Learner1 said:
Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Babies and children are larger than normal usually until age 8, when growth slows down, resulting in an average height in adults. Symptoms may include one side or area of the body growing more than the other side (asymmetric growth or hemihyperplasia), omphalocele or other abdominal wall defect at birth, low blood sugar (hypoglycemia) in infancy, an abnormally large tongue (macroglossia), abnormally large abdominal organs, creases or pits in the skin near the ears, and kidney abnormalities. Affected children have an increased risk to develop tumors, particularly a rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma.[1][2][3] Some people only have one symptom while others may have many of the symptoms.[2]

The cause of BWS is complex and is different for different people, but involves genes that control body growth. The genes, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes, are located on chromosome 11.


Not sure why you're asking about methylation genes in relation to this.
Click to expand...

@Learner1

Since it also affects the liver I believed that methylation was involved in relation to the genes of chromosome 11:


https://en.m.wikipedia.org/wiki/Chromosome_11
 
Learner1

Learner1

Senior Member
Messages
6,305
Location
Pacific Northwest
Agreed. However, this is a forum for ME/CFS, not for people with this very rare genetic condition, So it's unlikely you're going to find a lot of expertise on it here. You might look into a Facebook group or other forum for BWS to get more insight. Or see a doctor who's an expert at it.
 
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