Waardenburg syndrome: causes, treatment, etc. & bull; hello healthy

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Definition

What is Waardenburg syndrome?

Waardenburg syndrome or Waardenburg syndrome is a congenital disorder from birth.

Waardenburg syndrome or Waardenburg syndrome is a rare genetic disorder that can affect a baby's skin color, hair, eyes and facial shape at birth.

In some cases, Waardenburg syndrome or Waardenburg syndrome can also cause hearing loss.

Most babies born with Waardenburg syndrome actually have normal hearing function.

It's just that, sometimes babies can experience moderate to severe hearing loss in one or both ears at once.

Waardenburg syndrome-related hearing loss is a congenital disorder since a newborn.

The main characteristic that babies with Waardenburg syndrome usually have is pale blue eyes or different eye colors, such as one blue eye and one brown eye.

In addition, the hair of babies with Waardenburg syndrome also looks distinctive because it can change color, for example, turn gray.

However, basically the symptoms of Waardenburg syndrome can vary in each individual who experiences them, even if they are in one family.

There is no cure for Waardenburg syndrome, but it can be treated properly so that babies born with this condition can continue to live as normal.

How common is this condition?

Waardenburg syndrome or Waardenburg syndrome is a genetic disorder from birth that is classified as rare.

Launching from the U.S National Library of Medicine, Waardenburg syndrome can be experienced by about 1 in 40,000 newborns.

Waardenburg syndrome is divided into four distinct types. According to Medline Plus, type one and type two are the most common cases of Waardenburg syndrome, while type three and type four are rare.

Signs & Symptoms

What are the signs and symptoms of Waardenburg syndrome?

Symptoms of Waardenburg syndrome or Waardenburg syndrome can vary depending on the type experienced. So, there are four types or types of Waardenburg syndrome with each of the symptoms.

The most common symptoms of Waardenburg syndrome are skin color and eyes that tend to be pale or youthful. Another common symptom is the growth of several white hairs near the forehead.

The various symptoms of Waardenburg syndrome based on the type are as follows:

Type 1

A wide distance between the right and left eyes is one of the symptoms of Waardenburg syndrome type I. In addition, babies born with Waardenburg syndrome type 1 also have pale blue eyes or a different color in both eyes.

White patches on hair and skin as well as hearing loss (deafness) due to inner ear problems can also occur.

Type 2

Type 2 syndrome has experienced more hearing loss than the previous type 1. Pigment changes in hair and skin are also like type 1.

Only difference, type 2 does not experience a wide distance between the right and left eyes.

Type 3

This type is known as Klein-Waardenburg syndrome. Babies with type 3 syndrome besides having Waardenburg symptoms type 1 and type 2 also experience abnormalities in their hands.

For example, fingers that are together or a different shape of the shoulder. Another sign that babies born with this type have a wide nose and a long eye distance like type 1.

Type 4

This type is known as Waardenburg-Shah syndrome. Symptoms of this type are similar to Waardenburg type 2, the difference is that this type experiences loss of some nerve cells in the large intestine.

This is what causes children with this type to have difficulty defecating (constipation).

When to see a doctor

Waardenburg syndrome is a congenital defect that can be easily observed from a newborn. If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Waardenburg syndrome?

Waardenburg syndrome or Waardenburg syndrome is not a disease that is contagious and cannot be cured with drugs.

Waardenburg syndrome or Waardenburg syndrome is also not caused by lifestyle factors.

The cause of Waardenburg syndrome or Waardenburg syndrome is the occurrence of mutations or changes in at least six different genes in the body.

These mutated genes are genes that are responsible for forming various cells, especially melanocyte cells.

Melanocytes are a type of cell that determines the color of skin, hair and eye pigment. Melanocyte cells are also involved in the formation of inner ear functions.

If this cell formation is disturbed, the function of the inner ear will also be impaired. The type of gene that has the mutation will determine which type of Waardenburg syndrome a baby has.

Some of the names of the genes involved in this syndrome, such as the SOX10, EDN3, and EDNRB genes, affect the development of nerves in the large intestine.

Waardenburg syndrome types 1 and 3 are often caused by mutations in the PAX3 gene. There are different causes for each type of Waardenburg syndrome.

Waardenburg syndrome types 1 and type 3 can occur due to an autosomal dominant pattern.

An autosome is a chromosome but not a sex chromosome, whereas dominant is a single copy of a gene mutation that a person needs to have in order to experience a certain condition.

That is why, most babies born with Waardenburg syndrome type 1 and type 3 generally have parents with this disorder.

Meanwhile, Waardenburg syndrome type 2 and type 4 also follow a dominant inheritance pattern, but can also be passed from parent to child based on a recessive genetic pattern.

Type 2 and type 4 require two copies of the gene mutation so that the chances of a baby being born with this syndrome are usually less. In short, both of these inheritance patterns mean that Waardenburg syndrome can occur when a family member has had it first.

Risk Factors

What increases the risk of developing Waardenburg syndrome?

Genetic or hereditary factors in the family can increase the risk of Waardenburg syndrome in newborns.

As previously explained, if there are family members who have this congenital disorder, the baby's risk of experiencing it is also greater.

However, genes can also be recessive or do not appear in several generations of family descendants. However, the genetics of this syndrome may continue to run in the generations of the family.

As a result, later the baby still has the risk of being born with Waardenburg syndrome even though no previous family member shows symptoms of this disorder.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Medicines & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

Waardenburg syndrome will be further detected by doctors when there is a difference in the appearance of the newborn.

However, not all newborn babies will be seen the difference when tested. Some were only detected for several years later.

Some of the things that the doctor will check regarding Waardenburg syndrome or Waardenburg syndrome are as follows:

• The right and left eyes are different colors.
• Unusual hair pigmentation.
• The inner corner of the eye appears distinct, which is known as the canthi.
• History of a parent or sibling with Waardenburg syndrome.
• The eyebrows knit together as if they were one in certain cases.
• The presence of white spots on the baby's skin from birth.
• The shape of the nose bridge is widened as usual.
• When you see some of the signs above, the doctor will do a hearing test.

If you need to make sure in more detail, the doctor will perform DNA testing or tests through blood draw. Laboratory personnel will analyze the presence of DNA that has a genetic mutation.

This DNA test can also be done on the mother during pregnancy to determine the condition of the fetus in the womb.

What are the treatment options for Waardenburg syndrome?

There are basically no specific drugs given to people with Waardenburg syndrome. Babies born with Waardenburg syndrome can lead a normal life.

Lifestyle changes will also not affect the symptoms that appear in this syndrome. However, there are several treatments done to manage the symptoms that arise, such as:

• Use of hearing aids.
• Surgery to remove or prevent blockages in the intestines.
• The use of a colostomy bag is a tool for maintaining intestinal health in type 4 syndrome.
• Use of cosmetics to cover unusual skin pigments or other use of makeup to disguise.
• Some people with Waardenburg syndrome need psychological support to manage their particular condition, especially if they look very different.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.