The following Conditions are related to Deafness

Select a specific condition below to view its details.

  • Ichthyosis, chanarin dorman syndrome

    Ichthyosis Chanarin Dorman syndrome (CDS) is a rare autosomal disease that is also known as Ichthyotic Neutral Lipid Storage Disease with Ichthyosis (NSLDi). The mutations in the gene ABHD5 that is located on the short arm of chromosome 3.The gene encodes for a stimulating factor called the alpha-beta hydrolase domain, which is crucial for the enzyme Adipose TriGlyceride Lipase (ATGL).The primary role of A  Read More

  • Keratitis ichthyosis deafness syndrome

    Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet and the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known  Read More

  • Ws -- waardenburg syndrome

    Waardenburg syndrome (WS) is a group of genetic disorders named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who described it. This is an autosomal dominant inherited disorder. This rare disease results in the loss of pigmentary cells in the eyes, skin, stria vascularis of the cochlea, and hair.This type of disease may cause features like facial abnormalities like the diminished coloratio  Read More