Waardenburg syndrome
עודכן לאחרונה 4 אפריל 2023
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Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. 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). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
תיאור
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. 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). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
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 almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Waardenburg's syndrome
Related patient information and medicines
Patient information leaflet
לבקנות
(Differential diagnosis) Based on hair and skin having less pigmentation: Hermansky-Pudlak syndrome. Chediak-Higashi syndrome. Angelman syndrome ו Prader-Willi syndrome. Vici syndrome. Waardenburg syndrome type II. Tietz albinism-deafness syndrome. Griscelli syndrome. What problems do people with albinism have. People with albinism typically.
Patient information leaflet
תסמונת דאון
Down's syndrome (also known as Down syndrome) מטופל? a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.
Patient information leaflet
תסמונת אנטי-פרכוס עוברית
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
תסמונת שארל בונה
Charles Bonnet syndrome is a common condition experienced by people who are losing, or have lost, their sight. It involves seeing things which are not really there (having visual hallucinations). The hallucinations are most marked in low light or when relaxing and are often complicated scenes involving faces, children and wild animals. People.
Patient information leaflet
הפרעות ספקטרום היפרמוביליות
הפרעות ספקטרום היפרמוביליות include all people with what used to be called joint היפרמוביליות syndrome, and before that benign joint hypermobility syndrome. Anyone who has symptoms... Hypermobility spectrum disorders (HSDs) are a group of conditions that involve joint hypermobility (increased range of motion in the joints, sometimes referred.
Patient information leaflet
אנגינה מיקרווסקולרית
יש no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
קריאה נוספת והפניות
- Waardenburg syndrome; MedlinePlus, National Library of Medicine.
- Huang S, Song J, He C, Cai X, Yuan K, Mei L, Feng Y. Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome. Gene Ther. 2022 Sep;29(9):479-497. doi: 10.1038/s41434-021-00240-2. Epub 2021 Feb 25.
- Milunsky JM. Waardenburg Syndrome Type I. 2001 Jul 30 [updated 2022 Oct 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1531/
- Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):817-20. doi: 10.1177/000348940311200913.
- Newton VE. Clinical features of the Waardenburg syndromes. Adv Otorhinolaryngol. 2002;61:201-8. doi: 10.1159/000066810. No abstract available.
- Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II. Am J Med Genet A. 2003 Mar 15;117A(3):223-35. doi: 10.1002/ajmg.a.10193.
- Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.
- Zaman A, Capper R, Baddoo W. Waardenburg syndrome: more common than you think! Clin Otolaryngol. 2015 Feb;40(1):44-8. doi: 10.1111/coa.12312. No abstract available.
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