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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Waardenburg syndrome type 2


Other Names for this Disease

  • WS 2
  • WS type 2
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Symptoms

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What are the signs and symptoms of Waardenburg syndrome type 2?

In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes).[1][2] Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type.[2]
Last updated: 10/19/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Heterochromia iridis 90%
Premature graying of hair 90%
Sensorineural hearing impairment 90%
Hypopigmented skin patches 50%
White forelock 50%
Abnormality of the kidney 7.5%
Abnormality of the pulmonary artery 7.5%
Aganglionic megacolon 7.5%
Ptosis 7.5%
Telecanthus 7.5%
Albinism -
Autosomal dominant inheritance -
Congenital sensorineural hearing impairment -
Heterochromia iridis -
Heterogeneous -
Hypoplastic iris stroma -
Partial albinism -
Premature graying of hair -
Synophrys -
Underdeveloped nasal alae -
Variable expressivity -
White eyebrow -
White eyelashes -
White forelock -
Wide nasal bridge -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Waardenburg Syndrome. National Institute on Deafness and Communication Disorders (NIDCD). June 2010; http://www.nidcd.nih.gov/health/hearing/waard.asp. Accessed 10/19/2011.
  2. Faivre L & Vekemans M. Waardenburg syndrome type II. Orphanet. April 2005; http://www.orpha.net/data/patho/GB/uk-WS2(05).pdf. Accessed 10/19/2011.


Other Names for this Disease
  • WS 2
  • WS type 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.