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Waardenburg syndrome

Waardenburg syndrome is a genetic disorder associated with hearing loss and changes in skin and hair pigmentation. The syndrome is named for Dutch ophthalmologist Petrus Johannes Waardenburg who first described it. more...

Waardenburg syndrome
Wagner's disease
WAGR syndrome
Wallerian degeneration
Warkany syndrome
Watermelon stomach
Wegener's granulomatosis
Weissenbacher Zweymuller...
Werdnig-Hoffmann disease
Werner's syndrome
Whipple disease
Whooping cough
Willebrand disease
Willebrand disease, acquired
Williams syndrome
Wilms tumor-aniridia...
Wilms' tumor
Wilson's disease
Wiskott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
Wolman disease
Wooly hair syndrome
Worster-Drought syndrome
Writer's cramp

Pigmentation changes may include irises of varying color (heterochromia), or a patch of white or grey hair. Hearing loss may be absent, moderate, or profound.

Types of Waardenburg syndrome

There are several subtypes of the syndrome, traceable to different genetic variations. Dystopia canthorum, a widened bridge of the nose because of lateral displacement of the inner canthus of each eye, is associated with type I.

  • Type I: associated with mutations in the paired box 3 (PAX3) gene.
  • Type IIa: associated with mutations in the microphthalmia-associated transcription factor (MITF) gene
  • Type IIb: associated with a locus designated WS2B
  • Type IIc: associated with a locus designated WS2C
  • Type IId: associated with a deletion in the SNAI2 gene. Very rare.
  • Type III: associated with mutations in the paired box gene 3 (PAX3) gene
  • Type IV: Waardenberg-Hirschsprung disease, or Waardenburg-Shah syndrome, is associated with mutations in the endothelin-B receptor gene (EDNRB), the gene for its ligand, endothelin-3 (EDN3), or in the SRY-related HMG-box gene 10 (SOX10) gene. This subtype may include neurologic manifestations.


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.


This article incorporates public domain text from The U.S. National Library of Medicine


  • Waardenburg syndrome at OMIM, Genetic disorder catalog


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Hearing assessment in infants and children - Tips - Author Abstract
From American Family Physician, 10/1/03 by Sumi M. Sexton

Identification of hearing loss and intervention within the first six months of life have been shown to prevent adverse outcomes and facilitate language development. Adverse outcomes associated with congenital and acquired hearing loss include speech and language delay, poor academic performance, personal-social maladjustment, and emotional difficulties. The Committee on Practice and Ambulatory Medicine, and the Section on Otolaryngology and Bronchoesophagology of the American Academy of Pediatrics published a clinical report on hearing assessment in infants and children to outline the risk indicators for hearing loss, provide guidance for assessing hearing loss, and encourage physicians to be knowledgeable about hearing referral resources in their communities.

While newborn and infant hearing screening detects most cases of congenital hearing loss, some cases may not become evident until the child is older. Infants and children with high-risk indicators should be screened periodically for late-onset congenital hearing loss and acquired hearing loss (see the accompanying table). Any parental concern should be addressed by a formal hearing evaluation.

On physical examination, the following findings should alert the physician to investigate hearing loss: heterochromia of the irises; malformation of the auricle or ear canal; abnormal tympanic membrane; dimpling or skin tags around the auricle; cleft lip or palate; asymmetry or hypoplasia of the facial structures; microcephaly; and hypertelorism with abnormal pigmentation of the skin, hair, and eyes (Waardenburg syndrome). Children with repeated otitis media with effusion are at high risk of acquired hearing loss.

If an objective tool is required for testing, it should be age appropriate. Automated auditory brainstem response (ABR) is an electrophysiologic measurement of activity in auditory nerve and brainstem pathways measured by placing electrodes on the head to detect auditory stimuli from earphones in one ear at a time. It is a 15-minute test that can be done in all ages but is best performed while the infant or child is asleep to avoid artifacts caused by motion. Evoked otoacoustic emissions (OAE) is a 10-minute test that measures cochlear response using a small probe with a sensitive microphone in the ear canal for stimulus delivery and response detection. It can be assessed in all ages whether the child is awake or asleep. ABR and OAE test the auditory pathways, but they are not true tests of hearing. Condition-oriented responses and visual reinforced audiometry are behavior tests for children age nine months and above that measure the child's responses to speech and frequency-specific stimuli presented through speakers. Unlike ABR and OAE, these tests are not ear-specific. Children between the ages of two and four years are generally tested with play audiometry. Children older than four years are tested with conventional audiometry.

Physicians should be aware of the risk factors for hearing loss and make appropriate arrangement for formal evaluation and referral to community resources, such as otolaryngologists, audiologists, and speech pathologists.

Cunningham M, Cox EO. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics February 2003;111:436-40.

COPYRIGHT 2003 American Academy of Family Physicians
COPYRIGHT 2003 Gale Group

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