About ws -- waardenburg syndrome

What is ws -- waardenburg syndrome?

Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness. More specifically, some affected individuals may have an unusually wide nasal bridge due to sideways (lateral) displacement of the inner angles (canthi) of the eyes (dystopia canthorum). In addition, pigmentary abnormalities may include a white lock of hair growing above the forehead (white forelock); premature graying or whitening of the hair; differences in the coloration of the two irides or in different regions of the same iris (heterochromia irides); and/or patchy, abnormally light (depigmented) regions of skin (leukoderma). Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness).

Researchers have described different types of Waardenburg syndrome (WS), based upon associated symptoms and specific genetic findings. For example, Waardenburg syndrome type I (WS1) is characteristically associated with sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), yet type II (WS2) is not associated with this feature. In addition, WS1 and WS2 are known to be caused by alterations (mutations) of different genes. Another form, known as type III (WS3), has been described in which characteristic facial, eye (ocular), and hearing (auditory) abnormalities may be associated with distinctive malformations of the arms and hands (upper limbs). A fourth form, known as WS4 or Waardenburg-Hirschsprung disease, may be characterized by primary features of WS in association with Hirschsprung disease. The latter is a digestive (gastrointestinal) disorder in which there is absence of groups of specialized nerve cell bodies within a region of the smooth (involuntary) muscle wall of the large intestine.

In most cases, Waardenburg syndrome is transmitted as an autosomal dominant trait. A number of different disease genes have been identified that may cause Waardenburg syndrome in certain individuals or families (kindreds).

What are the symptoms for ws -- waardenburg syndrome?

Pale color skin symptom was found in the ws -- waardenburg syndrome condition

The most common symptoms of Waardenburg syndrome are Pale skin and pale eyes. Another common symptom is a streak of White hair near the forehead.

In many cases, someone with this condition might have two different-colored eyes. This is known as heterochromia iridis. Heterochromia can exist without the presence of Waardenburg syndrome.

In some newborns with Waardenburg syndrome, the condition is obvious at birth. For others, it may take some time for the signs to become obvious enough for a doctor to diagnose.

The symptoms of Waardenburg syndrome differ somewhat based on the type of condition.

Symptoms of type 1

Type 1 symptoms include:

  • wide-set eyes
  • heterochromia or pale blue eyes
  • white patches on the hair and skin
  • deafness caused by problems of the inner ear

Symptoms of type 2

The symptoms of type 2 are similar to those seen in type 1, except the eyes aren’t wide-set.

Symptoms of type 3

Type 3 is also known as Klein-Waardenburg syndrome. People with this type may have abnormalities of the hands, such as fused fingers, and of the arms.

Symptoms of type 4

Type 4 is also known as Waardenburg-Shah syndrome. Symptoms are similar to those seen in type 2. People with this type also have missing nerve cells in the large intestine. This results in frequent constipation.

What are the causes for ws -- waardenburg syndrome?

The type of Waardenburg syndrome you have depends on which gene or genes are mutated. For example, types 1 and 3 are triggered by a mutation of the PAX 3 gene on chromosome band 2q35.

The mutation of any gene responsible for Waardenburg syndrome affects melanocytes. These are a type of skin cell. Melanocytes affect the color of your hair, skin, and eyes. They’re also involved in the function of your inner ear.

What are the treatments for ws -- waardenburg syndrome?

There’s no actual cure for Waardenburg syndrome. Most of the symptoms don’t require treatment.

If inner ear deafness is present, hearing aids or cochlear implants can be used. As with any medical condition, seeking an evaluation and treatment for deafness as early as possible will help in a child’s language development and educational advancement.

If you have bowel nerve problems associated with type 4, surgery may be necessary. The portion of the bowel affected by the condition may be removed surgically to improve digestion.

Hair dye can help cover a white forelock. In some cases, white patches of skin, known as hypopigmentation, can be treated with a variety of topical ointments to help the patch blend in with the skin color around it. Cosmetics may also help.

If hypopigmentation affects more than half the body, depigmentation treatments may help. These treatments bleach all of your skin. They can make lighter patches less obvious. All of these options should be discussed carefully with a dermatologist familiar with treating Waardenburg syndrome and other similar skin conditions.

What are the risk factors for ws -- waardenburg syndrome?

Waardenburg syndrome (WS) is named after the investigator (PJ Waardenburg) who first precisely described the disorder in 1951. At least 1,400 cases have since been recorded in the medical literature. Evidence suggests that WS may have a frequency of approximately one in 40,000 births and account for about two to five percent of cases of congenital deafness. The disorder appears to affect males and females relatively equally.

Is there a cure/medications for ws -- waardenburg syndrome?

Waardenburg syndrome (WS) is a group of genetic disorders named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who described it. This is an autosomal dominant inherited disorder. This rare disease results in the loss of pigmentary cells in the eyes, skin, stria vascularis of the cochlea, and hair.

  • This type of disease may cause features like facial abnormalities like the diminished coloration of the hair, the skin, the iris of both eyes, and congenital deafness.
  • In some cases unusually wide nasal bridge due to sideways displacement of the inner angles of the eyes.
  • In pigmentary abnormalities, it causes a white lock of hair growing above the forehead, graying or whitening of the hair, etc.
  • Some may have hearing impairment due to abnormalities of the inner ear.
  • All conditions may change in different cases.

There are a variety of treatments according to symptoms that can be done.

  • For ear deafness, hearing aids or cochlear implants are used.
  • For bowel nerve problems, surgery is required.
  • For getting shape, for white or gray hairs, hair dye is useful.
  • For skin-related difficulties, depigmentation treatments are used to bleach the skin and maintain the average body color.
  • Gentaic counseling is also needed for some cases to identify types.
  • Dermatologists, psychiatrists, ophthalmologists, neurologists and rheumatologists need to work as a team while treating such patients.

Cleft lip (rare),Constipation,Deafness (more common in type II disease),Extremely pale blue eyes or eye colors that don't match,Pale color skin, hair, and eyes,Difficulty completely straightening joints,Possible slight decrease in intellectual function
Heterochromia,Partial albinism,Distinctive facial abnormalities,Unusually diminished pigmentation,

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