Select a specific condition below to view its details.
Albinism is a rare genetic condition caused by mutations of certain genes that affect the amount of melanin your body produces. Melanin controls the pigmentation (color) of your skin, eyes, and hair.People with albinism have extremely pale skin, eyes, and hair. They are at an increased risk of vision, skin, and social issues; the patients aren't born with the usual amount of melanin pigment.Melanin is a ch Read More
Launois-Bensaude syndrome is a rare condition consisting of adipose masses symmetrically. It is distributed mainly in the upper part of the body. a condition marked by symmetrical, painless diffuse fat deposits under the skin of the arms, legs, upper trunk, and neck.Though its specific mode of inheritance is unknown, the ailment is believed to be genetic; it could be a mitochondrial DNA disease. This condition usually co 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