Waardenburg syndrome type 1
Overview
Type I Waardenburg syndrome is characterized by evidence of dystopia canthorum and the full symptomatology of the disease.
Symptoms
Type I Waardenburg syndrome is characterized by evidence of dystopia canthorum and the full symptomatology of the disease. Individuals with type I Waardenburg syndrome also have a narrow nose, marked hypoplasia of the nasal bone, short philtrum, and short and retropositioned maxilla. A discriminant analysis revealed that the inner intercanthic distance, philtrum length, lower facial height, and nasal bone length were discriminating parameters of Waardenburg syndrome. Convergent strabismus (blepharophimosis) and reduced visibility of the medial sclera is observed. The head circumference, clivus length, and facial depth are smaller in affected individuals with this syndrome.
Causes
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.