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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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AAP issues screening recommendations to identify hearing loss in children - Practice Guidelines - American Academy of Pediatrics
From American Family Physician, 6/1/03 by Jennifer S. Bush

Failure to detect children with congenital or acquired hearing loss may result in lifelong deficits in speech and language acquisition, poor academic performance, personal-social maladjustment, and emotional difficulties. Physicians need to be able to recognize children who are at risk of congenital or acquired hearing loss, be prepared to evaluate their hearing and, if needed, arrange for proper referral and treatment. To assist them, the American Academy of Pediatrics (AAP) recently released screening recommendations for assessing hearing loss in children of all ages. The report was published in the February 2003 issue of Pediatrics and also is available at

Risk Factors

Significant hearing loss is present in one to six per 1,000 newborns, but some cases of congenital hearing loss may not become evident until childhood. Leading causes of acquired hearing loss include infectious diseases, especially meningitis and otitis media, trauma to the nervous system, damaging noise levels, and ototoxic drugs. Certain physical findings, historical events, and developmental conditions, including but not limited to anomalies of the ear and other craniofacial structures, significant perinatal events, and global developmental or speech-language delays also may indicate a potential hearing problem. Any child with at least one of the high-risk indicators in Table 1 should be screened periodically for late-onset congenital or acquired hearing loss.

According to the AAP, physicians should seriously consider a parent's concern that a child cannot hear and perform a formal hearing evaluation. Parents often report suspicion of hearing loss, inattention, or erratic response to sound before hearing loss is confirmed. In fact, parental concern has been found to be of greater predictive value than the informal behavioral examination performed in the physician's office.

Physical Examination

A thorough physical examination is essential in the evaluation of a child for hearing loss. Findings on head and neck examination associated with hearing impairment include heterochromia of the irises, malformation of the auricle or ear canal, abnormalities of the eardrum, dimpling or skin tags around the auricle, cleft lip or palate, asymmetry of the facial structures, and microcephaly. Hypertelorism and abnormal pigmentation of the skin, hair, or eyes, which is seen in Waardenburg's syndrome, also may be associated with hearing loss.

Temporary hearing loss has been demonstrated during episodes of acute otitis media with effusion. Any child with repeated or chronic otitis media should undergo a hearing evaluation. Pneumatic otoscopy and tympanometry are useful diagnostic tools for managing otitis media with effusion.

Objective Screening Tools

Universal hearing screening should be performed in all newborns. In addition, objective screenings for hearing impairment should be performed periodically on all infants and children, according to the schedule outlined in the AAP statement, "Recommendations for Preventive Pediatric Health Care" (available at re9939.html). Age-specific audiologic tests are outlined in Table 2.

The automated auditory brainstem response (ABR) is one objective means of evaluating hearing. It is currently used in many newborn-screening programs, but can be used in children of any age. The instrument is automated and provides a pass-fail report; no test interpretation by an audiologist is required. Because motion artifact interferes with test results, ABR is best performed in infants and children who are sleeping or, if necessary, sedated.

Evoked otoacoustic emissions (OAE) is another objective test for hearing loss and can be performed in children of all ages. While motion artifact does interfere with test results, children do not need to be sleeping or sedated. Although OAE is an effective screening tool for inner and middle ear abnormalities, it does not quantify hearing loss or hearing threshold levels. Because it does not assess the integrity of the neural transmission of sound from the eighth nerve to the brainstem, it will miss auditory neuropathy and other neuronal abnormalities. Children with such abnormalities will have normal OAE test results, but abnormal ABR test results.

Even if ABR or OAE test results are normal, hearing cannot be definitively considered normal until a reliable behavioral audiogram can be obtained. Behavioral pure tone audiometry remains the standard for hearing evaluation. It can determine hearing thresholds at specific frequencies as well as the degree of hearing impairment.

Children as young as nine to 12 months of age can be screened using conditioned oriented responses or visual reinforced audiometry. Both of these techniques condition the child to associate speech or frequency-specific sound with a stimulus such as a lighted toy or dancing animal. Visual reinforced audiometry usually is performed by an audiologist.

Children from two to four years of age are tested more appropriately using play audiometry. They are conditioned to respond to an auditory stimulus by, for example, dropping a block when a sound is heard through earphones.

Conventional screening audiometry can be used for children four years and older. Children are asked to raise their right or left hand when they hear a sound in the respective ear. Because ambient noise can affect test performance, especially at lower frequencies (i.e., 500 and 1,000 Hz), audiometry should be performed in a quiet environment using earphones. According to the AAP, each ear should be tested at 500, 1,000, 2,000, and 4,000 Hz. Air conduction hearing thresholds greater than 20 dB at any of these frequencies indicate possible impairment. Evidence of hearing loss should be substantiated by repeat screening. Before re-testing, the AAP recommends removing and repositioning earphones and carefully repeating the instructions to the child to ensure proper understanding and attention. A child whose repeat test shows hearing thresholds greater than 20 dB at any of these frequencies, especially if there is no pathologic abnormality of the middle ear on physical examination, should be referred for formal hearing testing. Children with unilateral or mild hearing loss also should be further evaluated. The results of hearing screening and ear examinations should be explained carefully to parents, and the child's chart should be marked clearly to facilitate tracking of referrals, developmental skills, and school performance.

Referral Resources

Physicians should familiarize themselves with local referral resources for hearing impaired children. According to the AAP, pediatric otolaryngologists, audiologists, and speech and language pathologists with special training and experience caring for children should be consulted for diagnosis, counseling, and treatment, if needed. Communication among professionals is essential to ensure appropriate management of the hearing impaired child.

COPYRIGHT 2003 American Academy of Family Physicians
COPYRIGHT 2003 Gale Group

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