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Diseases

Genetic and Rare Diseases Information Center (GARD)

Waardenburg syndrome type 2


Other Names for this Disease
  • WS 2
  • WS type 2
Related Diseases
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Symptoms

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

Waardenburg syndrome type 2 (WS2) is characterized by varying degrees of deafness and pigmentation (coloring) anomalies of the eyes, hair and skin, but without dystopia canthorum (lateral displacement of the inner canthi of the eyes). Sensorineural hearing loss is present in the majority of people with WS2 (almost 80%), and heterochromia iridum (differences in eye coloring) is present in almost half. In some people, particularly those with WS type 2E, signs of Kallmann syndrome are present.[1]
Last updated: 6/28/2016

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 -
Heterogeneous -
Hypoplastic iris stroma -
Partial albinism -
Synophrys -
Underdeveloped nasal alae -
Variable expressivity -
White eyebrow -
White eyelashes -
Wide nasal bridge -

Last updated: 7/1/2016

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. Véronique Pingault. Waardenburg syndrome type 2. Orphanet. October, 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895.


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