National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Waardenburg syndrome

Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.[1]
Last updated: 2/10/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Abnormality of vision
Abnormality of sight
Vision issue
[ more ] 		0000504
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Heterochromia iridis
Different colored eyes
0001100
Hypopigmented skin patches
Patchy loss of skin color
0001053
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] 		0002216
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] 		0000426
Synophrys
Monobrow
Unibrow
[ more ] 		0000664
30%-79% of people have these symptoms
Abnormal lip morphology
Abnormal lip
Abnormality of the lip
Lip abnormality
[ more ] 		0000159
Lacrimation abnormality
Abnormality of tear production
0000632
Telecanthus
Corners of eye widely separated
0000506
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
White forelock
White part of hair above forehead
0002211
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
5%-29% of people have these symptoms
Abnormal vagina morphology 0000142
Abnormality of the uterus
Uterine abnormalities
Uterine malformations
[ more ] 		0000130
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Aplasia/Hypoplasia of the colon
Absent/small colon
Absent/underdeveloped colon
[ more ] 		0100811
Intestinal obstruction
Bowel obstruction
Intestinal blockage
[ more ] 		0005214
Myelomeningocele 0002475
Oral cleft
Cleft of the mouth
0000202
Ptosis
Drooping upper eyelid
0000508
Percent of people who have these symptoms is not available through HPO
Aplasia of the vagina
Absent vagina
0003250
Autosomal dominant inheritance 0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Blue irides
Blue eyes
0000635
Congenital sensorineural hearing impairment 0008527
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypopigmentation of the fundus 0007894
Hypoplastic iris stroma 0007990
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Partial albinism
Partial absent skin pigmentation
0007443
Smooth philtrum 0000319
Spina bifida 0002414
Sprengel anomaly
High shoulder blade
0000912
Supernumerary ribs
Extra ribs
0005815
Supernumerary vertebrae 0002946
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] 		0000574
White eyebrow
Pale eyebrow
0002226
White eyelashes
Blonde eyelashes
Pale eyelashes
[ more ] 		0002227
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Last updated: 7/1/2020
A diagnosis of Waardenburg syndrome (WS) is made based on the presence of signs and symptoms. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor of the following criteria:[2][3]

Major criteria:
  • Congenital sensorineural hearing loss (present from birth)
  • Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil)
  • Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color
  • Dystopia canthorum – lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only)
  • Having a 1st degree relative with Waardenburg syndrome
Minor criteria:
  • Leukoderma (white patches of skin) present from birth
  • Synophrys (connected eyebrows, or "unibrow") or medial eyebrow flare
  • Broad or high nasal bridge (uppermost part of the nose)
  • Hypoplasia (incomplete development) of the nostrils
  • Premature gray hair (under age 30)
WS type 2 has features similar to type 1, but the inner canthi of the eyes are normal (no dystopia canthorum present).

WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia; flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes).

WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).[3]
Last updated: 2/11/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Waardenburg syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Waardenburg syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Waardenburg syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Can your eyes be brown when having this syndrome? Like a dark brown? Or do they have to be blue, or two different eye colors? Are you born with the hair being a light color in the front or does it progress? I am twenty five, and just my bangs are turning gray in a strip. And what kind of digestive problems are associated with it? See answer

  • My teenage daughter has Waardenburg syndrome. Recently she has developed body hair on her chest and upper lip. Her eyebrows are also growing together. Is this due to Waardenburg syndrome? See answer


  1. Véronique Pingault. Waardenburg syndrome. Orphanet. November, 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440.
  2. Jeff Mark Milunsky. Waardenburg Syndrome Type I. GeneReviews. August 7, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1531/.
  3. Dominic Tabor. Waardenburg syndrome. DermNet NZ. October, 2015; http://www.dermnetnz.org/colour/waardenburg.html.