Waardenburg syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Other Names: Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome; Mende Syndrome

• Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin.
• Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital).

Types

There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I scrutinizingly unchangingly have vision that towards widely spaced and people with type II do not. In addition, hearing loss occurs increasingly often in people with type II than in those with type I.

Type III (sometimes tabbed Klein-Waardenburg syndrome) includes abnormalities of the stovepipe and hands in wing to hearing loss and changes in pigmentation.

Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or staying of the intestine.

Epidemiology

Waardenburg syndrome affects an unscientific 1 in 40,000 people. It finance for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most worldwide forms of Waardenburg syndrome, while types III and IV are rare.

Cause

Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can rationalization Waardenburg syndrome. These genes are involved in the insemination and minutiae of several types of cells, including pigment-producing cells tabbed melanocytes. Melanocytes make a pigment tabbed melanin, which contributes to skin, hair, and eye verisimilitude and plays an essential role in the normal function of the inner ear. Mutations in any of these genes disrupt the normal minutiae of melanocytes, leading to unwont pigmentation of the skin, hair, and vision and problems with hearing.

Waardenburg syndrome types I and III are caused by mutations in the PAX3 gene. Mutations in the MITF or SNAI2 gene can rationalization Waardenburg syndrome type II.

Mutations in the SOX10, EDN3, or EDNRB gene can rationalization Waardenburg syndrome type IV. In wing to melanocyte development, these genes are important for the minutiae of nerve cells in the large intestine. Mutations in one of these genes result in hearing loss, changes in pigmentation, and intestinal problems related to Hirschsprung disease.

In some cases, the genetic rationalization of Waardenburg syndrome has not been identified.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which ways one reprinting of the unsimilar gene in each lamina is sufficient to rationalization the disorder. In most cases, an unauthentic person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.

Autosomal recessive inheritance, a 25% chance

Some cases of Waardenburg syndrome type II and type IV towards to have an autosomal recessive pattern of inheritance, which ways both copies of the gene in each lamina have mutations. Most often, the parents of an individual with an autosomal recessive condition each siphon one reprinting of the mutated gene, but do not show signs and symptoms of the condition.

Signs and symptoms

Signs and symptoms can vary both within and between families. Worldwide features include innate sensorineural deafness; stake undecorous eyes, variegated colored eyes, or two colors within one eye; a white forelock (hair just whilom the forehead); or early graying of scalp hair surpassing age 30. Various other features may moreover be present.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Unwanted facial shape(Unusual facial appearance)
• Wandering of vision(Abnormality of sight)
• Conductive hearing impairment(Conductive deafness)
• Heterochromia iridis(Different colored eyes)
• Hypopigmented skin patches(Patchy loss of skin color)
• Premature graying of hair(Early graying)
• Prominent nasal bridge(Elevated nasal bridge)
• Synophrys(Monobrow)

30%-79% of people have these symptoms

• Unwont lip morphology(Abnormal lip)
• Lacrimation abnormality(Abnormality of tear production)
• Telecanthus(Corners of eye widely separated)
• Underdeveloped nasal alae(Underdeveloped tissue virtually nostril)
• White forelock(White part of hair whilom forehead)
• Wide nasal bridge(Broad nasal bridge)

5%-29% of people have these symptoms

• Unwont vagina morphology
• Wandering of the uterus(Uterine abnormalities)
• Aganglionic megacolon(Enlarged colon lacking nerve cells)
• Aplasia/Hypoplasia of the colon(Absent/small colon)
• Intestinal obstruction(Bowel obstruction)
• Myelomeningocele
• Oral cleft(Cleft of the mouth)
• Ptosis(Drooping upper eyelid)

Diagnosis

A diagnosis of Waardenburg syndrome (WS) is made based on the presence of signs and symptoms. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A diagnosis of WS type 1 (the most worldwide type) needs 2 major, or 1 major and 2 minor of the pursuit criteria: Major criteria:

• Innate sensorineural hearing loss (present from birth)
• Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); stake undecorous vision (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil)
• Abnormalities of hair pigmentation, such as white forelock (lock of hair whilom the forehead), or loss of hair color
• Dystopia canthorum – lateral ostracism of inner angles (canthi) of the vision (in WS types 1 and 3 only)
• Having a 1st stratum relative with Waardenburg syndrome

Minor criteria:

• Leukoderma (white patches of skin) present from birth
• Synophrys (connected eyebrows, or "unibrow") or medial eyebrow flare
• Broad or upper nasal underpass (uppermost part of the nose)
• Hypoplasia (incomplete development) of the nostrils
• Premature gray hair (under age 30)

WS type 2 has features similar to type 1, but the inner canthi of the vision are normal (no dystopia canthorum present).

WS type 3 moreover has similar features to WS type 1, but is likewise characterized by musculoskeletal abnormalities such as muscle hypoplasia; flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes).

WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).

Treatment

There is no specific treatment. Symptoms will be treated as needed. Special diets and medicines to pension the exenterate moving are prescribed to those people who have constipation. Hearing should be checked closely.

Prognosis

Once hearing problems are corrected, most people with this syndrome should be worldly-wise to lead a normal life. Those with rarer forms of the syndrome may have other complications.

Possible Complications Complications may include:

• Constipation severe unbearable to require part of large exenterate to be removed
• Hearing loss
• Self-esteem problems, or other problems related to appearance
• Slight decreased intellectual functioning (possible, unusual).

Latest research articles on Waardenburg syndrome

• Most recent articles
• Ongoing trials

NIH genetic and rare disease info

• NIH info on Waardenburg syndrome

Waardenburg syndrome is a rare disease.

Waardenburg syndrome Resources
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