[…] child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier Identifying the gene responsible for WS2 is necessary to determine the subtype that is present [rarediseases.info.nih.gov]

The present study investigated three WS pedigrees, and clinical classification was made according to the patients' symptoms. Written informed consent was obtained from the family members who were willing to participate in the present study. [spandidos-publications.com]

The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations [ncbi.nlm.nih.gov]

Although not all cases of Waardenburg syndrome presents all the clinical features, there are signs and symptoms that are present in all types. Any of these would signal the clinician that the condition might be Waardenburg syndrome. [syndromespedia.com]

• Falling

  Die Handlungsempfehlungen sind in jedem Fall in Englischer Sprache veröffentlicht. In vielen Fällen finden Sie die Handlungsempfehlungen auch in weiteren Sprachen. [orphananesthesia.eu]

  Trans Pa Acad Ophthalmol Otolaryngol. 1971 Fall; 24 (2):121–122. [ PubMed ] [ Google Scholar ] David TJ, Warin RP. Waardenburg's syndrome in two siblings, both parents and their maternal grandmother. [ncbi.nlm.nih.gov]

  But the condition can quickly progress to shock, which is marked by falling blood pressure and body temperature, confusion, clotting abnormalities and bleeding into the skin. Blood poisoning is a medical emergency and can be fatal if left untreated. [livingnaturally.com]

• Anemia

  Association with megaloblastic anemia is not reported in literature to the best of our knowledge and megaloblastic anemia can be an incidental finding. References Waardenburg Syndrome: Case report. Bansal Y, Jain P, Goyal G, Singh M, Mishra C. [djo.org.in]

  Avoid with a history of seizures, bleeding disorders, eating disorders (such as anorexia or bulimia), or anemia (low levels of iron). Avoid if pregnant or breastfeeding. [livingnaturally.com]

  […] syndrome, Shwachman-Bodian syndrome, Pancreatic Insufficiency and congenital lipomatosis of pancreas,Metaphyseal chondrodysplasia (Shwachman-Diamondtype), SDS Sichelzellenanämie ( 2 Files ) Erkrankung: Sichelzellenanämie ICD 10: D57.1 Synonyme: Sickle Cell Anemia [orphananesthesia.eu]

• Short Stature

  stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Muscular dystrophy-dystroglycanopathy FKTN Myelodysplastic syndrome, somatic TET2 Myoclonus Dystonie SGCE Myopathy due to myoadenylate deaminase deficiency AMPD1 Myotonia Congenita [meduniwien.ac.at]

• Failure to Thrive

  […] gain weight at the expected rate (failure to thrive); and/or other abnormalities. [rarediseases.org]

• Heart Disease

  Avoid sudden or prolonged exposure to extreme temperatures in baths, wraps, saunas, or other forms of hydrotherapy, particularly with heart disease, lung disease, or if pregnant. [livingnaturally.com]

• Jaundice

  Avoid in newborns due to the potential for an increase in free bilirubin, jaundice, and development of kernicterus. [livingnaturally.com]

• Skin Disease

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

• Hearing Impairment

  For example, a person with WS may have a white forelock, a patch of white hair near the forehead, and no hearing impairment. Others may have white patches of skin and severe hearing impairment. [daviddarling.info]

  Management of Deafness or Hearing Impairment Once diagnosed with Waardenburg syndrome, the child or infant must begin with programs to manage the hearing impairment. [syndromespedia.com]

  Additional information on hearing impairments may be obtained from the NIDCD Clearinghouse. Write to: NIDCD Clearinghouse P.O. [the-medical-dictionary.com]

  Most of the children (n = 9) were attending a school for the deaf or hearing impaired at the 3-year follow-up. Two children (patients 3 and 6) attended special educational settings for the deaf or hearing impaired with additional disabilities. [karger.com]

As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition. [ncbi.nlm.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment Treatment Options: No ocular treatment is necessary but assistive hearing devices can be helpful. [disorders.eyes.arizona.edu]

Waardenburg Syndrome Treatment The treatment of WS is not yet discovered. As such, the curative measures only aim to treat the symptoms of the syndrome. Again, the approach for treatment mainly involves dealing with the problems related to hearing. [hxbenefit.com]

Treatment Different symptoms of Waardenburg syndrome appear in different people, even within the same family. Some individuals will require no treatment while others may need surgery or eye or other abnormalities. [verywell.com]

Diagnosis and Prognosis: In most cases no treatment is required. Fused fingers can sometimes be separated, deafness may be treated with hearing aids, and colon malfunction can be surgically treated. Lifespan is normal. [disorders.eyes.arizona.edu]

Outlook (Prognosis) Once hearing problems are addressed, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications. [mountsinai.org]

The authors present such a case of long segment aganglionosis in a 4-day-old male with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis. [panafrican-med-journal.com]

On the other hand, Waardenburg syndrome can be considered a disease because the etiology is known. [medlink.com]

[…] premature greying different colored eyes Etiology [ edit ] WT1: PAX3 gene on chromosome 2 (2q35) codes for DNA binding transcription factors expressed in the early embryo WS2: MITF gene mutations (3p14.1-p12.3) have been described in 10-20% MITF gene [en.wikibooks.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

Epidemiology of Waardenburg Syndrome (WS) Waardenburg syndrome affects both males and females of all races. [syndromespedia.com]

Prevention How can I prevent Waardenburg syndrome? There's no way to prevent Waardenburg syndrome since a genetic mutation causes the condition. [my.clevelandclinic.org]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

Genetic Counseling Waardenburg syndrome can be prevented by genetic counseling. [syndromespedia.com]

Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss [babyhearing.org]

Once the locations of the WS genes are found, scientists can develop gene therapy which may prevent or lessen the hearing loss associated with the disease. [the-medical-dictionary.com]