Albinism

Written by Medicine and Health. Posted in Disease, Condition & Injury, Total body conditions

(Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism)

Albinism – Definition

Albinism refers to a group of rare inherited disorders that are present from birth. Albinism affects the amount of pigment found in the skin, hair, and eyes. People with albinism usually have little to no pigment in their eyes, skin, and hair, but the degree of pigment loss can be quite variable. There are four types of Albinism:

Aarskog syndrome

Written by Medicine and Health. Posted in Disease, Condition & Injury, Muscles and skeleton conditions

(Aarskog-Scott Syndrome; Faciodigitogenital Dysplasia or Syndrome; Faciogenital Dysplasia; Shawl Scrotum Syndrome)

Aarskog Syndrome – Definition

Aarskog syndrome is an extremely rare genetic disorder. This syndrome causes changes in the size and shape of certain bones and cartilage in the body. The face, fingers, and toes are most often affected.

Aarskog Syndrome – Causes

Aarskog syndrome is an inherited disorder. It is caused by a gene mutation on the X chromosome. It is passed from mothers to male children. (Female children can be affected by a milder form of the disease.)