Waardenburg Syndrome Type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest during early development. Type 1 results in early graying and white forelock and a notable distance between the eyes, noted as dystopia canthorum. Common symptoms of the disease also includes non-progressive hearing loss in majority of patients with Type 1. Patients can display complete or partial heterochromia and hypoplastic blue irides and congenital leukemia. Presentation
Type 1 of the Waardenburg Syndrome’s notable feature is dystopia canthorum. Along with this feature, some patients eyelids are fused medially, resulting in medial sclerae. Inferior lachrymal is moved laterally, along with punctae opposite of the cornea. Other features include high and broad nasal root and also nasi hypoplasia. A squared jaw is reported in some patients. Others present with spina bifida due to the mutation in the neural crest during early development. Other features include the white forelock and graying that occurs in most patients prior to reaching age thirty. In extremely rare cases, the forelock may even be colored red rather than white. The coloring of the forelock may differ from patient to patient. It can appear at birth, or later in the life of those affected and size may vary. It is usually observed in the midline of the hair, but it can appear in other locations as well.
A  diagnosis can also be provided through genetic testing and identification of the PAX3 mutation in the patient’s genes. Gene analysis can take on a variety of tests such as single-gene testing (focus on PAX3), a multigene panel (PAX3 along with other genes), and a more comprehensive genomic testing when available.A list of major criteria was created to assess patients for Type 1 Waardenburg Syndrome. The list includes similar features as listed above such as congenital sensorineural hearing loss, white forelock, and hair pigmentation, pigmentation abnormality of the iris, dystopia canthorum, and related family members who exhibit the disease. Management
There is no direct treatment for the patients with Waardenburg Syndrome Type 1, however, there are multiple ways in which the symptoms are managed. There are some options for hearing loss aid depending on the type faced by the patient. In previous cases, cochlea implants were successful to aid the hearing loss. There is also some genetic screening available that can assess whether children can inherit the mutation in the PAX3 gene, but not an overall prediction on the manifestation of the disease in the future generations. Pregnant women who are at risk for children suffering from this disease are recommended Folic acid supplementation to assist with the neural crest development. Further counseling is available with life decisions such as pregnancies and starting families. Since Type 1 is a dominant autosomal disease, any offsprings of those affected are likely to also have the disease.