Associated with the hair forelock, skin pigmentation can also appear in different parts of the body and limbs (suspected to be caused by the mutation in KIT). In parts of the body of some patients, congenital leukoderma is observed.Similar to other types of the syndrome, Type 1 displays heterochromia in some patients, sometimes complete or partial. If it happens to be partial, the differently colored iris is separated from the radial segment of the eye. Deficient iris stroma along with hypoplastic blue arises have also been found in some patients with Type 1. Another one of the symptoms is hearing loss, presenting in about 69% of cases. The types of hearing loss reported in patients differ over a great spectrum. Some of which could be bilateral or unilateral, sensorineural sometimes a combination of different ones in each ear. The most common loss types reported for Type 1 are profound and bilateral. Waardenburg Type 1 is estimated to cause 3% of overall congenital deaf children. Genetics
Type 1 Waardenburg Syndrome is a dominant autosomal disease, with extremely high penetrance of nearly 85%  Type 1, as well as type 3, are linked to a mutation in the PAX3 gene located in chromosome 2q35. This gene is responsible for encoding a transaction factor named Drosophila paired (noted as prd) resulting in essential proteins. These proteins are responsible for multiple functions in early human development such as stem cell pluripotency, as well as inhibition of differentiation when needed and cell-lineage specification, migration, and proliferation in the cells .
Cases of skin disease that may be inherited in this mode include vitiligo, psoriasis, pemphigus vulgaris, systemic lupus erythematosus and so on. Chromosome
Chromosome inheritance of genodermatosis refers to the inheritance of a skin disease caused by chromosome abnormality. The same disease can be inherited in different modes. For instance, epidermolysis bullosa can be inherited in the mode of autosomal dominant or in the mode of autosomal recessive. Types
Genodermatosis has many types, many of which are rare. Common types
Ichthyosis
Ichthyosis refers mainly to ichthyosis vulgaris, a common genodermatosis, people with this disease have a fishy, dry skin, which usually appears in early childhood and may disappear in adulthood. The prevalence of ichthyosis vulgaris is high, affecting almost 1 per 250 people. There are also rare types of ichthyosis, such as epidermolytic hyperkeratosis, harlequin ichthyosis and so on. Rare types
Michelin tyre baby syndrome
Michelin tyre baby syndrome is a rare genodermatosis that occurs at birth, the skin of the patients is stacked symmetrically in layers like the image of the Michelin tyres mascot, which is also how this disease got its name. Epidermolysis bullosa
Epidermolysis bullosa is a rare type of genodermatosis, people with this disease have blisters on their skin and this disease is never completely cured for a lifetime. Epidermolysis bullosa is mainly subdivided into four types: dystrophic epidermolysis bullosa, epidermolysis bullosa simplex, junctional epidermolysis bullosa and kindler syndrome. Almost 1 in 50,000 people has epidermolysis bullosa.