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Disease Profile
Waardenburg syndrome type 3
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)
Klein-Waardenburg syndrome; Waardenburg syndrome, type 3; Waardenburg syndrome with upper limb anomalies;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Orpha Number: 896
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 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cutaneous finger |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] |
0000446 |
Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
Tented upper lip vermilion | 0010804 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
30%-79% of people have these symptoms | ||
Atelectasis |
Partial or complete collapse of part or entire lung
|
0100750 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
White hair | 0011364 | |
5%-29% of people have these symptoms | ||
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Spastic paraplegia | 0001258 | |
Tracheomalacia |
Floppy windpipe
|
0002779 |
Percent of people who have these symptoms is not available through HPO | ||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
0001452 | ||
Autosomal dominant inheritance | 0000006 | |
0000007 | ||
Blue irides |
Blue eyes
|
0000635 |
Short fingers or toes
|
0001156 | |
Carpal synostosis | 0009702 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Heterochromia iridis |
Different colored eyes
|
0001100 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Joint |
0009473 | |
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 |
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 |
Scapular winging |
Winged shoulder blade
|
0003691 |
Sensorineural hearing impairment | 0000407 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
0003828 | ||
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 |
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
- Genetics Home Reference (GHR) contains information on Waardenburg syndrome type 3. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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 3. Click on the link to view a sample search on this topic.