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All Communities

  • Syringomyelia

    132 members

    Syringomyelia (Sear-IN-Joe-My-E-Lee-Uh), or "SM", is a chronic disorder of the spinal cord which consists of the formation of a syrinx (a pocket of cerebral-spinal fluid sometimes referred to as a...

  • Common Variable Immunodeficiency

    237 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

    187 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

    Adrenomyeloneuropathy (AMN) is a rare inherited metabolic disorder that affects approximately 30,000 people worldwide.

  • 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

    355 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 inflammatory ocular disorder characterized by severe inflammation of both the choroid and retina. The disorder is thought to be an autoimmune condition.

  • Chromosome 4q Deletion Syndrome

    199 members

    Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome.

  • Addison's Disease

    53 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

    57 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

    212 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

    12q Chromosome Deletion is a rare disorder characterized by the deletion of chromosome 12q.