Meet Us Events. Menu Resources. Education Webinars White papers. Is a 7 gene panel that includes assessment of non-coding variants. Analysis methods. Number of genes. Test code. Panel size. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed. About Waardenburg Syndrome. Panel Content. Test Strength and Limitations.
Test Strengths. Test Performance. Bioinformatics and Clinical Interpretation. Clinical interpretation We provide customers with the most comprehensive clinical report available on the market. For Patients. Download order form Download consent form. Deliver kit to patient Deliver kit to patient. Phone number. Delivery address line 2. High nasal bridge. Prominent bridge of nose. Prominent nasal root. Protruding bridge of nose. Protruding nasal bridge. Abnormal lip. Abnormality of the lip.
Lip abnormality. Abnormality of tear production. Corners of eye widely separated. Underdeveloped tissue around nostril. White part of hair above forehead. 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. Uterine abnormalities. Uterine malformations. Enlarged colon lacking nerve cells.
Bowel obstruction. Intestinal blockage. Cleft of the mouth. Drooping upper eyelid. Absent vagina. Narrow opening between the eyelids. Blue eyes. Wide-set eyes. Widely spaced eyes. Big lower jaw. Increased projection of lower jaw. Increased size of lower jaw. Large lower jaw. Prominent chin. Prominent lower jaw. Partial absent skin pigmentation.
High shoulder blade. Extra ribs. Bushy eyebrows. Dense eyebrow. Description Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring pigmentation of the hair, skin, and eyes.
Frequency Waardenburg syndrome affects an estimated 1 in 40, people. In some cases, the genetic cause of Waardenburg syndrome has not been identified.
Inheritance Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Other Names for This Condition Waardenburg's syndrome. Genetic and Rare Diseases Information Center Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Waardenburg syndrome type 4.
Research Studies from ClinicalTrials. References Milunsky JM. Waardenburg Syndrome Type I. Worldwide distribution of Waardenburg syndrome.
Ann Otol Rhinol Laryngol. Clinical features of the Waardenburg syndromes. Types 1 and 2 are the most common. Type 1 Waardenburg syndrome causes someone to have a wide space between their eyes. About 20 percent of people with type I experience hearing loss. They also have patches of color or lost color on the hair, skin, and eyes. Hearing loss is more common in type 2 than type 1, with about 50 percent of people losing their hearing. The symptoms are otherwise similar to type 1, including changes in the pigment of the hair, skin, and eyes.
This version of the disease is distinguished from type 1 primarily by an absence of a large space between the eyes. Type 3 is similar to types 1 and 2, frequently producing hearing loss and pigment changes.
People with this form typically have a wide space between their eyes and a broad nose. The characteristic feature of type 3 that distinguishes it from types 1 and 2 is issues with the upper limbs. People with type 3 may have weak arms or shoulders or malformations in their joints. Some also have intellectual disabilities or a cleft palate.
Type 3 is sometimes called Klein-Waardenburg syndrome. Type 4 causes changes in pigmentation and may result in hearing loss. Additionally, people with this form have a disease called Hirschsprung disease.
This disorder can block the colon, causing severe constipation. The symptoms of Waardenburg syndrome vary depending on the type. Across types, most people have :. Most people with Waardenburg syndrome have normal hearing, but hearing loss can occur across all four types.
Some people with Waardenburg syndrome experience other abnormalities, primarily affecting the shape of various body parts. Some of the most common ones include:. Symptoms vary substantially within types, but Type 3 tends to be the most debilitating. In addition to the typical symptoms of Waardenburg syndrome, people with type 3 may experience :.
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