(Anaphylactic Reaction; Severe Allergic Reaction)

Anaphylaxis – Definition

Anaphylaxis is a severe, sometimes life-threatening, allergic reaction. It affects multiple organs, including the heart and lungs.

It is important to seek medical care right away if there are symptoms of anaphylaxis.

(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:

(Adrenal Insufficiency; Adrenocortical Hypofunction; Chronic Adrenocortical Insufficiency; Hypoadrenalism)

Addison’s Disease – Definition

Addison’s disease is a rare disorder of the adrenal glands. In the case of Addison’s, the glands do not produce enough of the hormones cortisol and aldosterone.

(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.)