Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder that affects the growth and development of various parts of the body. Several body parts, including the tongue, organs, or limbs, can become larger than normal because of this condition. BWS is often diagnosed at birth or during childhood, and most children with the condition lead normal lives with proper medical care and monitoring. It can also increase the risk of certain types of childhood cancer.
Changes in chromosome 11 can affect how the genes are turned on or off, or how they are inherited from the parents. There are several types of genetic changes that can cause BWS, such as:
About half of the cases of BWS are caused by abnormal methylation. This is a chemical process that attaches or removes methyl groups from the DNA. This affects the activity of certain genes that control growth.
An individual who inherits two copies of a gene from the father instead of one from each parent can suffer from paternal uniparental dysomy (UPD). Paternal uniparental dysomy accounts for about 20% of cases of BWS.
Mutations in the CDKN1C gene: This is a gene that limits cell growth. Mutations in the CDKN1C gene can prevent the gene from functioning properly, resulting in overgrowth of cells. Mutations in the CDKN1C gene cause about 5% of the cases of BWS.
There are chromosomal abnormalities that can affect genes on chromosome 11. These include translocations, duplications, and deletions of genetic material.
Approximately 15% of cases of BWS are inherited from one parent who has the condition or carries the genetic change, while the rest occur randomly during egg or sperm development or after fertilization.
The symptoms of BWS can vary from person to person, depending on the type and extent of the genetic change. Some of the common symptoms of BWS are:
The tongue may stick out of the mouth, causing difficulties with breathing, feeding, speech, and dental development.
Children with BWS may grow faster than their peers and reach an average adult height by the age of 8 because of macrosomia (above average weight and length).
In hemihyperplasia, one side of the body is larger than the other, causing asymmetry or unevenness in the face, limbs, or organs.
Omphaloceles occur when some abdominal organs protrude through the belly button, causing a bulge or hernia under the navel.
Usually harmless, ear creases or pits are small folds or holes in the earlobes or outer ears.
Known also as nevus flammeus or port-wine stains, birthmarks are patches of skin that are lighter or darker than the surrounding skin.
A hypoglycemia can cause symptoms like sweating, shakiness, irritability, seizures, or coma in newborns or infants with BWS. Hypoglycemia must be treated promptly to prevent brain damage.
It is more likely for children with BWS to develop certain types of tumors, such as liver, kidney, and adrenal gland tumors. Among the most common cancers associated with BWS are hepatoblastoma, Wilms tumors, and adrenocortical carcinomas. It is most common in the first few years of life and decreases with age.
The diagnosis of BWS is usually based on the child's physical features and medical history. Genetic tests can confirm the diagnosis by identifying the specific genetic change which causes the disease. A genetic test can also help determine the risk of inheritance and recurrence of BWS in the family.
Although BWS cannot be cured, there are treatments available to manage its symptoms and complications. The treatment plan depends on the needs and preferences of the child and family.
In cases of macroglossia, omphalocele, or hemihyperplasia, surgery can help improve the child's appearance, function, and quality of life.
Treatment with medication: This can help control blood sugar levels, prevent hypoglycemia, and treat infections, pain, and other conditions that may occur in children with BWS.
Surgery can improve the appearance, function, and quality of life of a child suffering from macroglossia, omphalocele, or hemihyperplasian kill the cancer cells and prevent them from spreading to other parts of the body.
A regular check-up and test is performed to monitor the child's growth and development as well as to detect signs of cancer. Physical examinations, blood tests, urine tests, ultrasound scans, X-rays, and other imaging tests can all be used to monitor the child and identify problems early. Monitoring can help improve the child's outcome.
BWS is a genetic disorder that occurs randomly or is inherited. However, some steps can be taken to reduce the risk of complications and improve a child's health and well-being. These include:
You can detect any signs of BWS in the fetus and prepare for delivery and baby care by seeking prenatal care and genetic counseling. As well as providing information and support to parents and family members about the causes, risks, and implications of BWS, genetic counseling can also help them cope with the diagnosis.
It is important to follow the treatment plan and recommendations to manage symptoms and complications of BWS and prevent further problems.
It is important to provide emotional and social support to the child and family so they can cope with the challenges and stress of living with BWS. Providing a loving and supportive environment for the child and encouraging their self-esteem and confidence are also important. A support group or professional help can also be helpful.
There are several factors that determine the outlook for children with BWS, including the type and severity of the genetic change, symptoms, complications, and response to treatment. When properly monitored and cared for, most children with BWS live a normal life. Children with BWS may, however, suffer from life-threatening or serious conditions, such as cancer, which require intensive treatment and may affect their quality of life and survival. If any signs of cancer or other complications appear, it is essential to follow the treatment plan and recommendations.
