Tag: support groups

  • Familial Cutaneous Amyloidosis

    Familial Cutaneous Amyloidosis Definition and Description of Familial Cutaneous Amyloidosis Familial Cutaneous Amyloidosis is a rare genetic disorder characterized by the deposition of amyloid protein in the skin. Amyloid is an abnormal protein produced by cells in the bone marrow and can accumulate in various tissues and organs. In familial cutaneous amyloidosis, this deposition primarily…

  • Fibrodysplasia Ossificans Progressiva

    Fibrodysplasia Ossificans Progressiva Definition and Description of Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder characterized by the abnormal development of bone in locations where bone normally does not exist, such as in muscles, tendons, and ligaments. This process, known as heterotopic ossification, results in painful and progressive immobility as the…

  • Expanded Rubella Syndrome

    Expanded Rubella Syndrome Definition and Description of Expanded Rubella Syndrome Expanded Rubella Syndrome (ERS) refers to a group of congenital defects caused by rubella infection during the first trimester of pregnancy. It is characterized by a set of symptoms affecting multiple organ systems, which can include cardiovascular issues, ophthalmologic abnormalities, and hearing impairments. Medically, ERS…

  • Eczema, Atopic

    Eczema, Atopic Definition and Description of Eczema, Atopic Eczema, Atopic, also known as atopic dermatitis, is a chronic inflammatory skin condition characterized by red, itchy, and inflamed skin. Medical experts define it as a multifaceted disorder involving a combination of genetic, environmental, and immunological factors. The skin barrier becomes compromised, leading to increased sensitivity and…

  • Empty Sella Syndrome

    Empty Sella Syndrome Definition and Description of Empty Sella Syndrome Empty Sella Syndrome (ESS) is a medical condition characterized by the presence of an empty sella turcica, a small cavity at the base of the skull that normally houses the pituitary gland. In this syndrome, the sella turcica appears to be filled with cerebrospinal fluid…

  • Dyslexia

    Dyslexia Dyslexia Definition and Description of Dyslexia Dyslexia is a specific learning disability that is neurobiological in origin. It is characterized by difficulties with accurate and/or fluent word recognition and by poor spelling and decoding abilities. These challenges are typically associated with a deficit in the phonological component of language and are unexpected in relation…

  • Dysphonia Spastica

    Dysphonia Spastica Definition and Description of Dysphonia Spastica Dysphonia spastica, also known as spasmodic dysphonia, is a voice disorder characterized by involuntary spasms of the vocal cords, resulting in interrupted or distorted voice production. Individuals with this condition experience difficulty in controlling their vocal cords, which can lead to a strained, choppy, or breathy voice.…

  • Eating Disorder, Pica Type

    Eating Disorder, Pica Type Definition and Description of Eating Disorder, Pica Type Eating Disorder, Pica Type is characterized by the persistent consumption of non-nutritive, non-food substances for a duration of at least one month. This behavior diverges from culturally supported practices and can occur in various populations, including children and adults. The Diagnostic and Statistical…

  • EB

    Understanding Epidermolysis Bullosa (EB) Definition and Description of EB Epidermolysis Bullosa (EB) is a rare genetic disorder characterized by fragile skin that blisters easily in response to minor injuries, heat, or friction. The condition results from mutations in genes responsible for producing proteins that help anchor the layers of skin together. This leads to a…

  • Ectopic Pregnancy

    Ectopic Pregnancy Definition and Description of Ectopic Pregnancy Ectopic Pregnancy is a medical condition in which a fertilized egg implants outside the uterus, most commonly in the fallopian tubes, but it can also occur in the ovaries, abdomen, or cervix. This abnormal implantation can lead to serious complications, as the growing tissue can cause the…