Klein-Waardenburg syndrome

クライン・ワールデンブルグ症候群

WordNet

1. United States fashion designer noted for understated fashions (born in 1942) (同)Calvin Klein, Calvin Richard Klein
2. German mathematician who created the Klein bottle (1849-1925) (同)Felix Klein
3. United States psychoanalyst (born in Austria) who was the first to specialize in the psychoanalysis of small children (1882-1960) (同)Melanie Klein
4. a pattern of symptoms indicative of some disease
5. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/02/15 07:47:16」(JST)

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Waardenburg syndrome
Classification and external resources
ICD-10	E70.3 (ILDS E70.32)
ICD-9	270.2
DiseasesDB	14021 33475
MedlinePlus	001428
eMedicine	ped/2422 derm/690
MeSH	D014849

Waardenburg syndrome (also Waardenburg­ Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van der Hoeve-Waardenburg-Klein syndrome, Waardenburg's syndrome II and Vogt’s 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.

It was first described in 1951

Eponyms and classification

Waardenburg syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg (1886–1979), who described the syndrome in detail in 1951. The condition he described is now categorized as WS1. Swiss ophthalmologist David Klein also made contributions towards the understanding of the syndrome.

WS2 was identified in 1971, to describe cases where "dystopia canthorum" did not present. WS2 is now split into subtypes, based upon the gene responsible.

Other types have been identified, but they are less common.

Signs and symptoms

There are five major and five minor diagnostic criteria for Waardenburg syndrome.

Major:

• sensorineural hearing loss
• iris pigmentary abnormality (two eyes different color or iris bicolor or characteristic brilliant blue iris) 
• hair hypopigmentation (white forelock or white hairs at other sites on the body) 
• dystopia canthorum (lateral displacement of inner canthi)
• first‐degree relative previously diagnosed with Waardenburg syndrome

Minor:

• skin hypopigmentation (congenital leukoderma/white skin patches)
• medial eyebrow flare (synophrys)
• broad nasal root 
• hypoplasia alae nasi
• premature graying of the hair (before age 30).

Epidemiology

The overall incidence is ~1/42,000 to 1/50,000 people. Types I and II are the most common types of the syndrome, whereas types III and IV are rare. Type 4 is also known as Waardenburg‐Shah syndrome (association of Waardenburg syndrome with Hirschsprung disease).

Type 4 is rare with only 48 cases reported up to 2002.

About 1 in 30 students in schools for the deaf have Waardenburg syndrome. All races and both sexes are affected equally. The highly variable presentation of the syndrome makes it difficult to arrive at precise figures for its prevalence.

Classification

Subtypes of the syndrome are traceable to different genetic variations:

Type	OMIM	Gene	Locus	Also known as
Type I, WS1	193500	PAX3	2q35	-
Type IIa, WS2A (originally WS2)	193510	MITF	3p14.1-p12.3	-
Type IIb, WS2B	600193	WS2B	1p21-p13.3	-
Type IIc, WS2C	606662	WS2C	8p23	-
Type IId, WS2D (very rare)	608890	SNAI2	8q11	-
Type III, WS3	148820	PAX3	2q35	Klein-Waardenburg syndrome
Type IVa, WS4A	277580	EDNRB	13q22
Type IVb, WS4B	613265	EDN3	20q13
Type IVc, WS4C	613266	SOX10	22q13

Symptoms

Facial morphology of Waardenburg syndrome

Symptoms vary from one type of the syndrome to another and from one patient to another, but they include:

• Very pale or brilliantly blue eyes, eyes of two different colors (complete heterochromia), or eyes with one iris having two different colours (sectoral heterochromia);
• A forelock of white hair (poliosis), or premature graying of the hair;
• Appearance of wide-set eyes due to a prominent, broad nasal root (dystopia canthorum)—particularly associated with type I) also known as telecanthus;
• Moderate to profound hearing loss (higher frequency associated with type II);
• A low hairline and eyebrows that touch in the middle.
• Patches of white pigmentation on the skin have been observed in some people. Sometimes, abnormalities of the arms, associated with type III, have been observed.
• Type IV may include neurologic manifestations.

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. Sometimes this is concurrent with Hirschsprung disease.

Inheritance

This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In most cases, an affected 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.

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. 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.

• Waardenburg syndrome is usually inherited in an autosomal dominant pattern.

• Types II and IV Waardenburg syndrome may sometimes have an autosomal recessive pattern of inheritance.

Treatment

There is currently no treatment or cure for Waardenburg syndrome. The symptom most likely to be of practical importance is deafness, and this is treated as any other irreversible deafness would be. In marked cases there may be cosmetic issues. Other abnormalities (neurological, structural, Hirschsprung disease) associated with the syndrome are treated symptomatically.

In animals

Waardenburg syndrome is known to occur in ferrets. The affected animal will usually have a small white stripe along the top or back of its head, sometimes down the back of the neck (known as a blaze) or a solid white head (from nose to shoulders; ferrets with this are known as a panda marked ferret) and a somewhat, although barely noticeably, flatter skull than normal ferrets. As a ferret's sense of hearing is poor to begin with it is not easily noticeable except for when the affected animal does not react to loud noises that non-affected ones will respond to. 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. However, largely as a result of mass-breeding due to the "exotic" markings it gives (when compared to a standard sable/pole cat marked or albino ferret), 75% of US ferrets with a blaze or white head sold from pet stores are deaf.

In Popular Culture

In the season 6 episode of Bones (TV Series), 'The Signs in the Silence', the team must solve a case in which the suspected killer has Waardenburg syndrome.

Enzo Macleod, protagonist of Peter May's series The Enzo Files, has Waardenburg syndrome. His eyes are different colors and he has a white streak in his hair. See pp. 17-18 of "Extraordinary People" (2006) by Peter Mays.

Other Contributors

• Waardenburg-Klein syndrome is named after Petrus Johannes Waardenburg (1886–1979), a Dutch ophthalmologist and geneticist, and David Klein, a Swiss human geneticist and ophthalmologist.
• Mende's syndrome II is named after Irmgard Mende (1938-), a German-American physician.
• Van der Hoeve-Halbertsma-Waardenburg Syndrome is named after Jan Van der Hoeve (1878-1952), a Dutch ophthalmologist, Nicolaas Adolf Halbertsma (1889-1968), Dutch physician and Petrus Johannes Waardenburg (1886–1979).
• Van der Hoeve-Halbertsma-Gualdi syndrome is named for Jan Van der Hoeve (1878-1952), Nicolaas Adolf Halbertsma (1889-1968) and Vincenzo Gualdi (1891-1976),an Italian physician.
• Vogt’s syndrome is named for Cecile Vogt (1875-1962), a French-German neuropathologist.

See also

• Chediak–Higashi syndrome
• List of cutaneous conditions

References

External links

• GeneReviews/NCBI/NIH/UW entry on Waardenburg Syndrome Type I
• OMIM Genetic disorder catalog — Waardenburg syndrome

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 遺伝性皮膚症 the genodermatoses
• 2. 新生児における難聴スクリーニング screening the newborn for hearing loss
• 3. 小児における聴覚障害の評価 evaluation of hearing impairment in children
• 4. 小児における難聴の病因 etiology of hearing impairment in children
• 5. 慢性偽性腸閉塞 chronic intestinal pseudo obstruction

English Journal

• Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome.

• van Nierop JW1, Snabel RR, Langereis M, Pennings RJ, Admiraal RJ, Mylanus EA, Kunst HP.
• Audiology & neuro-otology.Audiol Neurootol.2016 Jun 1;21(3):187-194. [Epub ahead of print]
• OBJECTIVE: To analyse the benefit of cochlear implantation in young deaf children with Waardenburg syndrome (WS) compared to a reference group of young deaf children without additional disabilities.METHOD: A retrospective study was conducted on children with WS who underwent cochlear implantation at
• PMID 27245679

• Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.

• Ma J1, Zhang TS1, Lin K1, Sun H2, Jiang HC3, Yang YL4, Low F1, Gao YQ1, Ruan B5.
• International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2016 Jun;85:56-61. doi: 10.1016/j.ijporl.2016.03.043. Epub 2016 Apr 7.
• OBJECTIVE: Waardenburg syndrome is a congenital genetic disorder. It is the most common type of syndromic hearing impairment with highly genetic heterogeneity and proved to be related by 6 genes as follows: PAX3, MITF, SNAI2, EDN3, EDNRB and SOX10. This article aims to identify the genetic causes of
• PMID 27240497

• [Mutation analysis of seven patients with Waardenburg syndrome].

• Hao Z1, Zhou Y, Li P, Zhang Q, Li J, Wang P, Li X, Feng Y.
• Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2016 Jun;33(3):312-5. doi: 10.3760/cma.j.issn.1003-9406.2016.03.007.
• OBJECTIVE: To perform genetic analysis for 7 patients with Waardenburg syndrome.METHODS: Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software.RESULTS:
• PMID 27264810

Japanese Journal

• Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as wall as Waardenburg syndrome type I (WS-I)

• HOTH CF.
• Am J Hum Genet 52, 455-462, 1993
• NAID 10009318175

Related Links

• Waardenburg-Klein syndrome - definition of Waardenburg ...

syndrome (sin´drōm), n a group of signs and symptoms that occur together and characterize a disease. syndrome, adaptation, n See disease, adaptation; syndrome, general adaptation. syndrome, adrenogenital, n disorder of sexual ...

• Whonamedit - Klein-Waardenburg syndrome - Whonamedit ...

Description A hereditary congenital defect involving pigmentation. It consists of a white forelock, vitiligo, partial or total heterochromic irides, hyperplastic broad high nasal root, lateral displacement of the medial canthi and lacrimal ...

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