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Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome) is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies.
Waardenburg syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg (1886a€“1979), who described the syndrome in detail in 1951.[1][2] The condition he described is now categorized as WS1. WS2 was identified in 1971, to describe cases where dystopia canthorum did not present.[4] WS2 is now split into subtypes, based upon the gene responsible.
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes are implicated in Waardenburg Syndrome.
Waardenburg syndrome has also been associated with a variety of other congenital disorders, such as intestinal and spinal defects, elevation of the scapula, and cleft lip and palate.
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.
Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder. Types II and IV Waardenburg syndrome may sometimes have an autosomal recessive pattern of inheritance. In the season 6 episode of Bones, 'The Signs in the Silence', the team must solve a case in which the suspected killer has Waardenburg syndrome. The book Reconstructing Amelia by Kimberly McCreight features several characters with Waardenburg symptoms. The book Closer Than You Think by Karen Rose features three characters, siblings, with Waardenburg Syndrome. Waardenburg-Klein syndrome is named after Petrus Johannes Waardenburg (1886a€“1979), a Dutch ophthalmologist and geneticist, and David Klein, a Swiss human geneticist and ophthalmologist. Van der Hoeve-Halbertsma-Waardenburg Syndrome is named after Jan Van der Hoeve (1878a€“1952), a Dutch ophthalmologist, Nicolaas Adolf Halbertsma (1889a€“1968), Dutch physician and Petrus Johannes Waardenburg (1886a€“1979). Van der Hoeve-Halbertsma-Gualdi syndrome is named for Jan Van der Hoeve (1878a€“1952), Nicolaas Adolf Halbertsma (1889a€“1968) and Vincenzo Gualdi (1891a€“1976), an Italian physician. Vogta€™s syndrome is named for Cecile Vogt (1875a€“1962), a French-German neuropathologist. Classic stigmata of congenital syphilis SNHL, interstitial keratitis, Hutchinson teeth (notched incisors), mulberry molars, Clutton joints (bilateral painless knee effusions), nasal septal perforation & saddle deformity& frontal bossing. Waardenburg syndrome is a genetic disease (parent to child) due to waardenburg syndrome condition occur many symptoms hearing loss and due to variation in pigmentation discolouring occurs in hair, eyes, skin. Due to variation of iris pigmentary in eye is a heterochromia condition and less or more variation of pigmentary in iris can  decolouring in eyes. Some people due to waardenburg syndrome the eyes become very pale blue color or can be blue, dark black etc.
Due to variation of pigment in skin occur skin heterochromia condition which results white color patches on skin.


And due to variation of pigment in hair, color of hairs is changes and hair color can be in white or in multi-colours this is features of heterochromia.
Most of the peoples due to Waardenburg syndrome lose hearing capacity from birth or congenital that can be in one or both ears. That waardenburg syndrome condition may be varies among people and effect individuals people that can be of same family. This four type’s waardenburg syndrome is divided into physical characteristics and at the genetic. Type1 of syndrome in the peoples appears widely set eyes or appear widely spaced in eye etc. In this syndrome condition the heterochromia in irises of eyes color of irises color change and become different skin color is become different become on body white spots and hair color make white and may be multi-colors  that is due to variation in pigmentation in body, In this syndrome the people hearing capacity is lost etc. This type3rd syndrome also called as Klein-waardenburg syndrome due to this hearing lost and abnormalities or effect on the arms etc.
This also called as Waardenburg-Shah syndrome include waardenburg syndrome and Hirschsprung disease due to this disorder in intestine and blocks, occur severe constipation etc. Enter your email address to subscribe to this blog and receive notifications of new posts by email. Some of these genes are involved in the making of melanocytes, which makes the pigment melanin. Types I and II are the most common types of the syndrome, whereas types III and IV are rare.
Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. If an affected parent is homozygous dominant there is a 100% that the child will be affected and if the affected parent is heterozygous dominant then there is a 50% chance that a child of an affected parent will be affected. The symptom most likely to be of practical importance is deafness, and this is treated as any other irreversible deafness would be. The affected individual will usually have a small white stripe along the top or back of the head and sometimes down the back of the neck (this is known as a "blaze" coat pattern), or a solid white head from nose to shoulders (known as a "panda" coat pattern).
All types share two main features: hearing loss and pigment (color) changes in the skin, hair, and eyes. Skeletal findings osteochondritis& periostitis of long bones SNHL, interstitial keratitis, Hutchinson teeth (notched incisors), mulberry molars, Clutton joints (bilateral painless knee effusions), nasal septal perforation & saddle deformity& frontal bossing. This child is having white hair this is due to variation in pigmentation discolouring occurs in hair, eyes, skin. Melanin is an important pigment in the development of hair, eye color, skin, and functions of the inner ear.
Type 4 is also known as Waardenburga€?Shah syndrome (association of Waardenburg syndrome with Hirschsprung disease).


The highly variable presentation of the syndrome makes it difficult to arrive at precise figures for its prevalence.
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.
The ferret will often have a very slightly flatter skull than ferrets without the syndrome and may have unusually wide-set eyes. May be one blue eye and other one is brown eye color and can be multi-colors in one eye this is a heterochromia sign.
Due to pigmentation in disorder of hair heterochromia condition occur due to make hair color in white.
So the mutation of these genes can lead to abnormal pigmentation and hearing loss.[5] PAX3 and MTIF gene mutation occurs in type I and II (WS1 and WS2). Types II and IV is autosomal recessive, symptoms are not definite they vary just as the other typea€™s symptoms will. Other abnormalities (neurological, structural, Hirschsprung disease) associated with the syndrome are treated symptomatically.
As a ferret's sense of hearing is poor to begin with, associated deafness is not easily noticeable except for a lack of reaction to loud noises. Eyes may be very pale light-blue or each a different color. People with Type I may almost always have wide-set eyes. A study was done on a rare case of a double heterozygous child with each parent having only single mutations in MTIF or PAX3. As the disorder is easily spread to offspring, the affected animal will not be used for breeding by private, reputable breeders, although it may still be neutered and sold as a pet.
The effect of double heterozygous mutations in the genes MTIF and PAX3 in WS1 and WS2 can increase the pigment-affected symptoms.
Attention must be paid to any hearing deficits, and hearing aids and appropriate schooling may be needed.
Type IV (WS4) can also affect portions of nerve cell development that potentially can lead to intestinal issues. Special diets and medicines to keep the bowel moving are prescribed to type IV patients who have constipation. Outlook (Prognosis) Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life.



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