Not only does this feature present, but also there is evidence to interact with the MITF gene, which is responsible for different types of syndrome Waardenburg. [amp.en.google-info.in]

This disease is observed in the neonatal stages of early life.[1] Presentation[edit] A patient displaying heterochromia as a symptom of type 2D Waardenburg syndrome. [en.wikipedia.org]

• Developmental Disorder

  […] the skin Genetic and developmental disorders affecting the skin EC23 Genetic disorders of skin pigmentation H00759 Waardenburg syndrome Related pathway hsa04916 Melanogenesis hsa04520 Adherens junction hsa04020 Calcium signaling pathway hsa04080 Neuroactive [genome.jp]

• Constipation

  Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. https [ncbi.nlm.nih.gov]

  Dietary Changes: They are advised to prevent the complication of constipation and to maintain regular bowel movements. Conclusion: Although it is a genetic condition, the average lifespan of the child will be normal. [icliniq.com]

  Special diets and medicines to keep the bowel moving are prescribed to those people who have constipation. Hearing should be checked closely. [healthjade.com]

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

• Piebaldism

  Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. [ctdbase.org]

  Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. Synonym(s): Klein-Waardenburg-Syndrom / [hon.ch]

  Other mutations in some of the above genes can cause related clinical syndromes, such as Tietz syndrome (MITF gene ), piebaldism (SNAI2 gene ), PCWH (SOX10 gene ), or ABCD syndrome (EDNRB gene ). [dermnetnz.org]

  MIM.601706), a SOX10 mutation having been reported in one of these families; Black Locks-Albinism-Deafness syndrome (BADS) (MIM.227010) with total colonic aganglionosis-Hirschsprung disease in one case; aganglionic megacolon associated with familial piebaldism [humpath.com]

• Hypopigmented Skin

  skin patches　(皮膚低色素斑)　[HP:0001053]　[18014] 　Sensorineural hearing impairment　(感音難聴)　[HP:0000407]　[0910] 　White forelock　(白色の前髪)　[HP:0002211]　[17101] 　 　<5%-29%> 　Abnormality of the kidney　(腎異常)　[HP:0000077]　[130] 　Abnormality of the pulmonary artery　 [syndromefinder.ncchd.go.jp]

  skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 White forelock White part of hair above forehead 0002211 5%-29% of people have these symptoms Abnormality of the kidney Abnormal kidney 0000077 Abnormality of the [rarediseases.info.nih.gov]

• Skin Patch

  Unpigmented patches of skin are more susceptible to sun damage, so sun protection is important. What is the outcome for Waardenburg syndrome? The clinical features of Waardenburg syndrome are stable and the features will remain throughout life. [dermnetnz.org]

  症候群 IID 型) 責任遺伝子：602150 Snail, drosophila, homolog of, 2 (SNAI2) <8q11.21> 遺伝形式：常染色体劣性 (症状) (GARD) WS2 共通 　<80%-99%> 　Premature graying of hair　(早期白髪)　[HP:0002216]　[17101] 　 　<30%-79%> 　Heterochromia iridis　(虹彩異色症)　[HP:0001100]　[06102] 　Hypopigmented skin [syndromefinder.ncchd.go.jp]

  patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 White forelock White part of hair above forehead 0002211 5%-29% of people have these symptoms Abnormality of the kidney Abnormal kidney 0000077 Abnormality of the pulmonary [rarediseases.info.nih.gov]

• White Eyebrows

  eyebrow　(白色眉毛)　[HP:0002226]　[1726] 　White eyelashes　(白色睫毛) 　[HP:0002227]　[1734] 　Wide nasal bridge　(幅広い鼻梁)　[HP:0000431]　[0703] 　 (UR-DBMS) 【眼】内眼角外方偏位なし 　虹彩異色症 【耳】先天性両側性感音難聴 【その他】遺伝的異質性 (責任遺伝子) *602150 Snail, drosophila, homolog of, 2 (SNAI2) <8q11.21 [syndromefinder.ncchd.go.jp]

  eyebrow Pale eyebrow 0002226 White eyelashes Blonde eyelashes Pale eyelashes [ more ] 0002227 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased [rarediseases.info.nih.gov]

• Skin Disease

  diseases See the DermNet NZ bookstore. [dermnetnz.org]

• Progressive Hearing Loss

  Progressive hearing loss has been reported in people with Waardenburg syndrome type 2. [rareguru.com]

  (Презентация) Type 2 syndrome Waardenburg is determined by the violations hearing function and pigmentation of hair, skin and eyes, and progressive hearing loss in some cases. [amp.en.google-info.in]

  Is hearing loss in people with Waardenburg syndrome type 2 likely to be progressive? Progressive hearing loss has been reported in people with Waardenburg syndrome type 2. [healthjade.com]

  Type 2 of the Waardenburg Syndrome is defined by the abnormalities of auditory function and pigmentation in the hair, skin, and eyes as well as progressive hearing loss in some cases. [en.wikipedia.org]

• Hearing Impairment

  Genes related to Waardenburg Syndrome, Type 2d; Ws2d SNAI2 View recommended genes panels Clinical Features Phenotypes and symptoms related to Waardenburg Syndrome, Type 2d; Ws2d Hearing impairment Sensorineural hearing impairment Telecanthus Abnormality [mendelian.co]

  [from OMIM] Show allHide all Abnormality of head or neck Telecanthus Abnormality of the eye Heterochromia iridis Ear malformation Congenital sensorineural hearing impairment IMPORTANT NOTE: NIH does not independently verify information submitted to the [ncbi.nlm.nih.gov]

  0002251]　[12305] 　Ptosis　(眼瞼下垂)　[HP:0000508]　[06807] 　Albinism　(白子)　[HP:0001022]　[18014] 　Autosomal dominant inheritance　(常染色体優性遺伝)　[HP:0000006] 　Congenital sensorineural hearing impairment　(先天性感音難聴)　[HP:0008527]　[0910] 　Hypoplastic iris stroma　(虹彩間質低形成 [syndromefinder.ncchd.go.jp]

  Sensorineural hearing loss is present in the majority of people with WS2 (almost 80%), and heterochromia iridum (differences in eye coloring) is present in almost half.[1] Progressive hearing loss has also been reported in some people with WS2.[3] In [rarediseases.info.nih.gov]

• Heterochromia Iridis

  138 3178 131242 HP:0001100 HP:0001100 Heterochromia iridis 0 EDNRB CL E G H 1910 895 ORPHA 1 258 3180 131244 HP:0001100 HP:0001100 Heterochromia iridis 0 EDNRB CL E G H 1910 895 ORPHA 1 233 3180 131244 HP:0001100 HP:0001100 Heterochromia iridis 0 EDNRB [mseqdr.org]

  Major criteria Sensorineural deafness Iris pigmentary abnormality, such as heterochromia iridis – complete, partial, or segmental ; isohypochromia iridis; or fundus pigmentary abnormalities Abnormalities of hair pigmentation, such as white forelock, eyebrows [dermnetnz.org]

  Affiliated tissues include eye, and related phenotypes are heterochromia iridis and telecanthus Disease Ontology : 12 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss [malacards.org]

  [from OMIM] Show allHide all Abnormality of head or neck Telecanthus Abnormality of the eye Heterochromia iridis Ear malformation Congenital sensorineural hearing impairment IMPORTANT NOTE: NIH does not independently verify information submitted to the [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1 (WS1). Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. [humpath.com]

  bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 Showing of 21 | Last updated: 2 [rarediseases.info.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

As there is no definitive treatment, the family and the patient's awareness regarding symptomatic treatment is also very important. [statpearls.com]

Treatment is symptomatic and supportive 8). [healthjade.com]

What is the treatment for Waardenburg syndrome? As Waardenburg syndrome is a genetic disease there is no curative treatment. Genetic counselling may be helpful for affected patients who want to start a family. [dermnetnz.org]

Treatment may include the use of hearing aids and/or cosmetic products or treatments (if desired) for skin hypopigmentation.[1] Waardenburg syndrome type 2 can be further divided into subtypes based on the genetic cause, when the responsible gene can [rarediseases.info.nih.gov]

Waardenburg syndrome type 3 prognosis Due to the very few number of cases described so far, information on prognosis and quality of life is limited. [healthjade.com]

Prognosis WS is a chronic condition. Life expectancy in children with Waardenburg syndrome is normal. [statpearls.com]

[…] binding protein (e.g., Sin3A) as a co-repressor interacting with UBE2D3 (directly represses the promoter of the UBE2D3 gene) association of SNAI2 with CCND1 levels via UBE2D3 is important in the understanding of the complex role played by SNAI2 in the etiology [genatlas.medecine.univ-paris5.fr]

Genetic counseling is necessary.[4] Etiology WS is an autosomal dominant disorder. [statpearls.com]

Type 4 WS is due to mutations in the genes for one of its receptors, EDNRB or endothelin-3, which is autosomal recessive and a very rare variant.[6] Epidemiology The prevalence is variable around the world. [statpearls.com]

Pathophysiology WS is a genetic disorder with autosomal dominant inheritance.[5] There are various hypotheses proposed about the pathogenesis and to explain the different types and clinical features. [statpearls.com]

Dietary Changes: They are advised to prevent the complication of constipation and to maintain regular bowel movements. Conclusion: Although it is a genetic condition, the average lifespan of the child will be normal. [icliniq.com]

These may include the use of specially tinted glasses or contact lenses (e.g., to help reduce possible sensitivity to light), measures to help prevent or treat infection, or other preventive or therapeutic steps. [healthjade.com]