Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome's disease overview

Beckwith-Wiedemann syndrome (English name is Beckwith-Wiedemann Syndrome) is a growth regulatory disorder that leads to excessive growth . The most common features of Beckwith-Wienemann syndrome include large body size (macrosomia), large tongue (macroglossia), abdominal defects, increased risk of tumor in children, abnormal kidney, lowering Blood sugar during newborn and abnormal wrinkles in the ear. Children with Beckwith-Wiedemann syndrome may also have hypertrophy (hemihyperplasia), in which some parts of the body are larger on one side than the other side.

The main characteristics of Beckwith-Wiedemann syndrome include large body size (macrosomia), large tongue (macroglossia) often appear at birth. Abdominal wall defects such as abdominal wall defects (ombalocele), causing the organs inside the abdomen to protrude through the navel, appear at birth and may have surgery before the infant was discharged from the hospital. Mothers with children with Beckwith-Wiedemann syndrome may have pregnancy complications, including premature birth and amniotic fluid (polyhydramnios), abnormal big placenta and long umbilical cord.

The growth rate is generally slow in childhood. The normal intellectual development and adults with Beckwith-Wiedemann syndrome often do not experience any health problems related to their condition.

Causes of Beckwith-Wiedemann syndrome's disease

There are several known genetic causes of Beckwith-wiedemann syndrome and isolated Hemihypertrophy syndrome, which often leads to a change in the expression of one or more genes in the chromosome area No. 11 called 11P15.

In most cases, these genetic changes occur in some but not all cells, leading to mosaic. Mosaic means some parts of the body have normal 11 -chromosomes and other parts with cells that change chromosomes 11. Clinical characteristics are seen in Beckwith-Wiedemann syndrome and congenital hemolytic disease is called over 11p.

Normally, there are two copies of chromosomes No. 11, one from a mother and one father. A copy of the number 11 chromosome of the mother will show some genes that control the growth on the 11P15 chromosome area that the father's copy does not have, and vice versa. This phenomenon is called imprinting and is caused by methylation, or a DNA marking process to turn on or off certain genes. The balance of children's genetic expressions from mother and father's copies to create normal and symmetrical growth. However, in patients with Beckwith-Wiedemann syndrome, different parts of this process may be changed.

The cause that can cause Beckwith-Wiedemann syndrome is:

Methylation defects in chromosomes 11P15: Methylation defects can add or delete a certain gene, which will lead to some genes that are "on" when " It may be "turned off" and vice versa.

Uniparental Disomy (Update) at chromosomes 11p15: Uniparental Disomy (Update) occurs when both copies of 11P15 are inherited from only either of the parents. In the cases of Uniparental Disomy (update) in Beckwith-Wiedemann syndrome, both copies of the 11P15 chromosome are inherited from the father. In these cases, the patient only manifests genes from the father's chromosome without being affected by the mother's genes.

CDKN1C gene mutations or rarely occur in areas that produce methylation signs.

Chromosomal abnormalities at 11p15: These changes may include loss (lack of genetic materials), copying (adding genetic materials), translating code (the wrong gene. position) and reverse (genetic material reorganized).

It is important that doctors must find a specific gene mutation, because that affects the specific increase of tumors and follow -up schedules. suitable.

Symptoms of Beckwith-Wiedemann syndrome's disease

All physical characteristics related to Beckwith-Wiedemann syndrome are part of the overly development spectrum of the 11P gene. The excessive development of 11p is defined as excessive development and other characteristics related to genetic changes in a specific chromosome area called 11p, the same area that causes Beckwith-wiedemann syndrome. .

Characteristics of Beckwith-Wiedemann syndrome include:

Macrosomia weight and length (macrosomia)

Excessive development of one or part of the body (Hemihypertrophy/Hemihyperplasia

Macroglossia.

Low blood sugar concentration during neonatal and sometimes prolonged hypoglycemia due to hyperninery.

Defects in the abdominal wall (such as umbilical hernia or abdominal wall defect (ombalocele), in the intestine and sometimes other abdominal organs protruding from the abdominal wall to the outside of the body )

Belly abdominal organs such as kidneys, liver and pancreas.

wrinkles or ears.

Increased risk of developing some childhood cancers (mostly can be cured by appropriate treatment).

Beckwith-Wiedemann syndrome occurs at 1 out of 11,000 births, with the same incidence in boys and girls. Because children with Beckwith-wiedemann syndrome may never receive a diagnosis, this rate may not be accurate compared to reality ..

Transmission route of Beckwith-Wiedemann syndrome's diseaseBeckwith-Wiedemann syndrome

Beckwith-wiedemann syndrome is not an infectious disease, so it is unable to spread from patients to healthy people.

People at risk for Beckwith-Wiedemann syndrome's disease

Family members who have Beckwith-Wiedemann syndrome

Prevention of Beckwith-Wiedemann syndrome's disease

Beckwith Wiedemann syndrome is inherited, so it is very difficult to proactively prevent. Experts recommend avoiding getting married in case the boyfriend's family and the girlfriend's family are sick. Early detection and treatment is important, helping to ensure the best health for children.

Diagnostic measures for Beckwith-Wiedemann syndrome's disease

Diagnosis of Beckwith-Wiedemann syndrome is largely based on physical signs when a clinical doctor is as suspected of an older body than their age, especially if an asymmetric growth is in two. side of the body. There are many other signs that can be encountered in some children with Beckwith-Wiedemann syndrome. However, not all children with Beckwith-Wiedemann syndrome will have all the same symptoms, divided into two groups including common symptoms and less common symptoms. It is often agreed that at least one patient has 1 common symptom and 2 common IT symptoms are qualified to diagnose Beckwith-Wiedemann syndrome:

Common symptoms:

Macrosomia (large body size)

Macroglossia (large tongue)

omphalocele (belly protruding through the navel)

HemihyPlasia, are some parts of the body larger on one side

Wrinkle ear lobe

Visceromegaly, is 1 or more or many organs in the abdomen are big

fetal tumors (tumor, liver cell tumor, nerve tumor, tissue cancer)

The adrenal tumor (adrenal gland tumor)

Abnormalities in the kidneys

Output palate

Family history of people with Beckwith-Wiedemann syndrome

Symptoms are less common

Polyhydramnios (too much amniotic fluid)

premature birth

Hypoglycemia

Cardiovascular problems

Diastatsis Recti

hemangioma, a non -cancer tumor made of blood vessels

Early diagnosis of Beckwith-Wiedemann syndrome is very important because children with Beckwith-Wiedemann syndrome are at risk of developing a number of tumors, including U Wilms and Uyum. liver cells.

Genetic tests of gene mutations related to the Wilms tumor, but it is very complicated. Experts recommend that all genetic test families for Beckwith-Wiedemann syndrome need to meet a clinical geneticist, a medical doctor trained in genetics and a mentor. Genetics can explain tests and work in testing. The existing genetic testing methods can identify up to 80% of gene mutations that cause Beckwith-Wiedemann syndrome.

What is

What is the risk of cancer related to Beckwith-Wiedemann syndrome?

Some different types of tumors including cancer and non-cancer have been reported in children with Beckwith-Wiedemann syndrome. It is estimated that the risk of children with Beckwith-Wiedemann syndrome has a tumor of about 5% to 10%. The tumor is very rare after 10 years of age and the risk of individual tumors decreases over time until the risk is similar to the population in general. The highest risk of cancer in children with Beckwith-Wienemann syndrome has Hemihyperplasia and Organomegaly, which means the energy of organs, especially kidney disease. The most common types of tumors are:

Wilms tumor (kidney tumors; about 40% of cases and of which 20% of patients will have Wilms tumors in both kidneys)

Cancer adrenal gland cancer (about 20% of cases)

Neuroblastoma (Neuroblastoma)

Rhabdomyosarcoma

Beckwith-Wiedemann syndrome's disease treatments

Screening recommendations for people with Beckwith-Wiedemann syndrome are mainly to detect liver and wilms tumors. Proposed screens for those who have been diagnosed or suspected of Beckwith-wiedemann syndrome include:

Magnetic resonance imaging (MRI) or computerized tomography (CT or CAT) abdominal shooting at the time of diagnosis

Abdominal ultrasound to screen liver tumors and Wilms tumors every 3 months, until 4 years old. After 4 years of age, it may only need kidney ultrasound until 8 years old.

Alpha-Fetoprotein serum tests every 6 weeks or at least every 3 months until 4 years old.

Periodic health checks, including abdominal examination; The schedule is determined by a doctor directly.

If a child has a identical twin pairs without signs of Beckwith-Wiedemann syndrome, the twin babies still have to be tested Serum blood test and serum alpha-fetoprotein, as noted above.

In addition, hypoglycemic screening is very important in young children. Children with Beckwith-Wiedemann syndrome may also need to be assessed by a team of cranial research, doctors specializing in treating head and face condition, to determine if there may be surgery to reduce size. Tongue or not. Support may be necessary to support the difficulties in nurturing young children and developing speaking ability in childhood.

Screening recommendations may change over time as new technologies are developed and more deep in Beckwith-Wiedemann syndrome. It is important that the patient and the family need to talk to the doctor about the appropriate screening tests.

Additional health care needs

Some children with Beckwith-wiedemann syndrome and congenital hemolytic disease may need to be cared for by many medical experts in different fields such as:

Cancer: The cancer doctor can tell the risk of cancer, as well as coordinate and consider the results of the appropriate tests for cancer monitoring. >

Orthopedic: Children with Beckwith-wiedemann syndrome have the length of the two uniform vacuums, so they need to be assessed by the orthopedic doctor for the direction of the travel process. of children.

Cosmetic surgery: Children with big tongue should be examined by a cosmetic surgeon and comprehensive assessment of the big tongue effect causing for feeding, speaking and sleeping .

Endocrine: Children with severe hypoglycemia should be examined and treated by endocrinologists until this symptom is completely controlled.

See also:

XYY syndrome: Causes, symptoms, diagnosis and treatment Born?

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