[…] 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]

• Pathologist

  They should also extend full co-operation to pathologists and doctors during treatment. Waardenburg Syndrome Prevention The chances of occurrence of this disorder can be predicted with the help of genetic counseling. [hxbenefit.com]

  This group of individuals should include an Otologist or Otolaryngologists, audiologists, speech-language pathologists, a clinical geneticist and a genetic counselor. [californiaearinstitute.com]

  […] ophthalmologists); hearing specialists; physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); physicians who specialize in diseases of the digestive tract (gastroenterologists); speech-language pathologists [rarediseases.org]

• Developmental Delay

  Systemic examination was within normal limits with no evidence of neuro-developmental delay. An audiometry done at this stage showed changes suggestive of sensorineural deafness. [ijpd.in]

  Patient 5 showed learning disabilities, and patient 9 had a developmental delay. [karger.com]

• Abdominal Bloating

  Associated symptoms and findings may include an abnormal accumulation of feces within the colon; widening of the colon above the affected segment (megacolon); abdominal bloating (distension); vomiting; lack of appetite (anorexia); failure to grow and [rarediseases.org]

• Abdominal Distension

  Patient and observation A 4-day-old full term male baby with a birthweight of 3100 g was admitted with history of bilious vomiting, inability to pass meconium, and abdominal distension since birth. [panafrican-med-journal.com]

• Jaundice

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

• Premature Graying of the Hair

  […] corner of the eye displaced to the side (dystopia canthorum) Minor criteria: Patches of light or white skin Eyebrows extending toward middle of face Nose abnormalities Premature graying of the hair (by age 30) Waardenburg syndrome type 2 is defined as [verywell.com]

  Hypopigmented eyes, hair and skin – White pigmentations can be present in the skin, a lock of gray or white hair growing prematurely can be seen, and a pale color of eyes is noted and the color can be different in both eyes. [syndromespedia.com]

  Minor criteria include skin hypopigmentation (congenital leukoderma/ white skin patches), medial eyebrow flare (synophrys), broad nasal root, hypoplasia alae nasi, and premature graying of the hair. [panafrican-med-journal.com]

• 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]

• Dizziness

  Vestibular symptoms including vertigo, dizziness and balance problems have been reported in Waardenburg Syndrome, even without hearing loss. [californiaearinstitute.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

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]