Rare Immunology News
Advertisement
Disease Profile
Waardenburg syndrome type 4
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 >
Age of onset
Neonatal
ICD-10
Q87.8
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)
Waardenburg-Shah syndrome; WS4; Waardenburg-Hirschsprung disease;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat 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 | ||
Abnormal macular morphology | 0001103 | |
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
Constipation | 0002019 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 |
30%-79% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Olfactory lobe agenesis |
Olfactory lobe absence
|
0001341 |
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 |
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 retinal pigmentation | 0007703 | |
Anosmia |
Lost smell
|
0000458 |
Lacrimal gland hypoplasia |
Underdeveloped tear gland
|
0007732 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Percent of people who have these symptoms is not available through HPO | ||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
0001251 | ||
0000006 | ||
0000007 | ||
Blue irides |
Blue eyes
|
0000635 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Global |
0001263 | |
Heterochromia iridis |
Different colored eyes
|
0001100 |
Decreased activity of gonads
|
0000135 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Leukodystrophy | 0002415 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] |
0002216 |
Sensorineural hearing impairment | 0000407 | |
Spastic paraparesis | 0002313 | |
White eyebrow |
Pale eyebrow
|
0002226 |
White eyelashes |
Blonde eyelashes
Pale eyelashes
[ more ] |
0002227 |
White forelock |
White part of hair above forehead
|
0002211 |
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
|
---|
The differential diagnosis includes other forms of Waardenburg syndrome, piebaldism and ermine phenotype, as well as other causes of hearing loss or Hirschsprung disease.
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.
Organizations Providing General Support
-
International Foundation for Functional Gastrointestinal Disorders (IFFGD)
3015 Dunes West Blvd. Suite 512
Mount Pleasant, SC 29466
Telephone: +1-414-964-1799
Website: https://iffgd.org/ -
Pull-thru Network
1705 Wintergreen Pkwy
Normal, IL 61761
Telephone: 309-262-0786
E-mail: [email protected]
Website: https://www.pullthrunetwork.org/
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.
In-Depth Information
- 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.
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C - 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 4. 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.
- Waardenburg syndrome, type 4A; WS4A. Online Mendelian Inheritance of Man. 2010; https://www.ncbi.nlm.nih.gov/omim/277580. Accessed 4/18/2011.