Rare Nephrology News
Disease Profile
Waardenburg syndrome type 1
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.
Unknown
Age of onset
Neonatal
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)
WS1; Waardenburg's syndrome type 1
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
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 | ||
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
| 0008527 | ||
| Heterochromia iridis |
Different colored eyes
|
0001100 |
| Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
| Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
| 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 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| 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 |
| White forelock |
White part of hair above forehead
|
0002211 |
| White hair | 0011364 | |
| 30%-79% of people have these symptoms | ||
| Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] |
0002216 |
| Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
| Tented upper lip vermilion | 0010804 | |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| 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 | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
|
Cleft roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Meningocele | 0002435 | |
| Myelomeningocele | 0002475 | |
|
Drooping upper eyelid
|
0000508 | |
| 0002650 | ||
| Sprengel anomaly |
High shoulder blade
|
0000912 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| 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 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypopigmentation of the fundus | 0007894 | |
| Hypoplastic iris stroma | 0007990 | |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Partial albinism |
Partial absent skin pigmentation
|
0007443 |
| Smooth philtrum | 0000319 | |
| Spina bifida | 0002414 | |
| Supernumerary ribs |
Extra ribs
|
0005815 |
| Supernumerary vertebrae | 0002946 | |
Cause
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnosis includes Waardenburg syndrome type 2, 3 and 4, piebaldism, Tietz syndrome, oculocutaneous albinism, Vogt-Koyanagi-Harada disease(see these terms) and other forms of congenital non-progressive sensorineural hearing loss.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the Adults & Children with Waardenburg syndrome group on Facebook.
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
- 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 type 1. 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 Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. 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.
- 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) 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 type 1. Click on the link to view a sample search on this topic.
References
- Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; https://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed 10/20/2011.
- Milunsky JM. Waardenburg Syndrome Type I. GeneReviews. August 2009; https://www.ncbi.nlm.nih.gov/books/NBK1531/. Accessed 10/20/2011.
- PAX3. Genetics Home Reference (GHR). April 2006; https://ghr.nlm.nih.gov/gene/PAX3. Accessed 10/20/2011.
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