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Disease Profile
Waardenburg syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
E70.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome; Mende Syndrome
Summary
Waardenburg
Symptoms
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.
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 |
Drooping upper eyelid
|
0000508 | |
Percent of people who have these symptoms is not available through HPO | ||
Aplasia of the vagina |
Absent vagina
|
0003250 |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Blue irides |
Blue eyes
|
0000635 |
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 |
Diagnosis
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
WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve
Learn more
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.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Waardenburg syndrome. This website is maintained by the National Library of Medicine.
- 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.
References
- Véronique Pingault. Waardenburg syndrome. Orphanet. November, 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440.
- Jeff Mark Milunsky. Waardenburg Syndrome Type I. GeneReviews. August 7, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1531/.
- Dominic Tabor. Waardenburg syndrome. DermNet NZ. October, 2015; https://www.dermnetnz.org/colour/waardenburg.html.
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