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All Communities

  • Syringomyelia

    134 members

    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...

  • Common Variable Immunodeficiency

    238 members

    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

    192 members

    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's Disease

    54 members

    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

    295 members

  • Fibromyalgia

    103 members

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

  • Systemic Capillary Leak Syndrome

    368 members

    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

    133 members

    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. ...

  • Chromosome 4q Deletion Syndrome

    204 members

    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

    54 members

    Addison´s disease is a rare endocrine or hormonal disorder characterized by a diminished production of hormones by the adrenal glands, two small orga...

  • Dent's Disease

    76 members

    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

    67 members

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

  • Muckle-Wells Syndrome

    105 members

    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)...

  • Microduplication 22q11.2 Syndrome

    58 members

    Microduplication 22q11.2 syndrome is caused by an extra copy of a small piece of chromosome 22 at location q11.2.

  • 13q Deletion Syndrome

    52 members

    Chromosome 13q deletion is a rare genetic disorder in which a piece of genetic material from the long arm (q) of one of the two chromosome 13s is missing. The symptoms and severity of the disord...

  • Blastic Plasmacytoid Dendritic Cell Neoplasm

    58 members

    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...

  • 15q 26.2 Deletion

    211 members

    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...

  • Tarlov Cyst

    70 members

    Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can ...

  • Large Granular Lymphocytic Leukemia

    246 members

    Large granular lymphocyte leukemia or LGLL is a rare cancer of a type of white blood cells called lymphocytes. Lymphocytes are part of the immune system, the natural defense of the body that hel...

  • 12q Chromosome Deletion

    55 members

    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...