Syringomyelia is a chronic disorder of the spinal cord which consists of the formation of a fluid-filled cyst, also known as a syrinx, in the spinal cord. As the cyst enlarges over tim...

Under the name of common variable immunodeficiency (CVID) are enclosed a group of disorders of the immune system with different underlying causes but similar symptoms. This syndrome is character...

Antisynthetase syndrome is a rare, chronic, inflammatory autoimmune disorder that affects the muscles and other parts of the body. An autoimmune disorder is one where the body’s own immune...

Darier disease, also known as keratosis follicularis, is a rare genetic disorder of the skin. It is characterized by skin lesions that consist of thickened, scaly bumps which can be yellow or br...

Adrenomyeloneuropathy (AMN) is an inherited condition caused by a genetic mutation impairing the ability to metabolize very long-chain fatty acids (VLCFAs). Fatty acids are the buildin...

Fibromyalgia is a disorder characterized by the core symptoms of chronic widespread pain, tenderness, fatigue, sleep disturbance, and cognitive disturbance. The severity of each differs between ...

Systemic Capillary Leak Syndrome (SCLS) is an exceedingly rare, life- and limb-threatening disorder characterized by acute and severe recurrent attacks featuring a rapid fall in blood pressure d...

Birdshot Chorioretinopathy is a rare progressive condition characterized by vitritis (inflammation) and multiple ovoid spots, which are typically orange in colour and hypopigmented, in the eye. ...

Morgellons is a condition characterized by a range of symptoms including crawling, biting, and stinging sensations on the skin; finding fibers on or under the skin; and persistent rashes or sores.

Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“i...

Addison´s disease is a rare endocrine or hormonal disorder characterized by a diminished production of hormones by the adrenal glands. The adrenal gl...

Dent disease is a rare X-linked recessive, chronic kidney condition found almost exclusively in males. The severity of the disease and the specific symptoms can vary. Females, who can be carrier...

Adrenoleukodystrophy is a rare disease characterized by progressive brain damage and failure of the adrenal glands.

Muckle-Wells syndrome (MWS) is an hereditary autoinflammatory disease with periodic fevers caused by mutations in the NLRP3 gene. It is considered a cryopyrin-associated syndrome (CAPS)...

Duplication of genes on chromosome location 22q11.2 causes a genomic disease known as microduplication 22q11.2 syndrome. The normal human genome has 23 chromosomes, 22 autosomes and 1 ...

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare cancer that affects certain cells of the immune system called dendritic cells. The immune system is the natural defense of the body...

15q26 deletion is a genetic condition in which a small piece of DNA (genetic material) is missing from one of the 46 chromosomes, specifically from the q (long arm) of chromosome 15.  Depen...

The spinal cord is a part of the nervous system that extends down the vertebral column. The spinal cord is divided into thirty one segments. From each segment, two sets of nerves emerge that are...

Large granular lymphocyte leukemia (LGLL) is a rare form of leukemia affecting the white blood cells called “lymphocytes”. Leukemia is a term referring to cancer in the blood, causin...

Each human cell stores its genetic material (DNA) in chromosomes. All normal human cells have 23 pairs of chromosomes with the exception of sperm or egg cells that have 23 single chromosomes. Al...