Explore rare diseases in clinical trials

Check which rare diseases are currently being frequently studied.

See also our popular diseases glossary and drug database.

Starting by letter

To open the rare diseases glossary, select a letter from the list below.

Rare diseases starting with “s”

  • 1

    SAPHO syndrome

    SAPHO syndrome is a rare condition that combines bone and joint inflammation with skin problems, creating a unique challenge for both patients and doctors trying to understand and manage this complex disorder.

  • 4

    Sarcoidosis

    Sarcoidosis is a condition where the immune system overreacts and forms tiny lumps called granulomas in various organs of the body, most commonly in the lungs and lymph nodes, though it can affect almost any part of the body including the skin, eyes, heart, and nervous system.

  • 9

    Sarcoma

    Sarcoma is a rare type of cancer that begins in the bones and soft tissues of the body. Although sarcomas make up only 1% of all adult cancers, they require specialized care from expert teams who understand how to treat these complex diseases.

  • 7

    Short-bowel syndrome

    Short bowel syndrome is a serious condition that occurs when the body cannot absorb enough nutrients and fluids from food because part of the small intestine is missing or damaged. This rare disorder affects how your body processes the food you eat and requires specialized care to manage.

  • 0

    Shprintzen-Goldberg syndrome

    Shprintzen-Goldberg syndrome is a rare genetic disorder that affects multiple parts of the body, causing distinctive skull and facial features, skeletal problems, and developmental challenges that vary widely from person to person.

  • 14

    Sjogren’s syndrome

    Sjogren’s syndrome is a long-term autoimmune disease where the body’s immune system attacks the glands that produce moisture, leading to widespread dryness throughout the body, especially in the eyes and mouth.

  • 1

    Skin angiosarcoma

    Skin angiosarcoma is a rare and aggressive cancer that develops in the lining of blood vessels and lymph vessels, most commonly appearing on the head, neck, and scalp, often resembling a bruise that grows and changes over time.

  • 1

    Small intestine leiomyosarcoma

    Small intestine leiomyosarcoma is a rare and aggressive cancer that develops in the smooth muscle cells of the small bowel. Early diagnosis is challenging because the tumor grows slowly and may not cause symptoms until it reaches an advanced stage, making surgical removal the cornerstone of treatment.

  • 24

    Soft tissue sarcoma

    Soft tissue sarcoma is a rare type of cancer that starts in the body’s connective tissues, including muscles, fat, blood vessels, and nerves. Though these cancers can develop anywhere in the body, they most commonly appear in the arms, legs, and abdomen.

  • 3

    Splenic marginal zone lymphoma

    Splenic marginal zone lymphoma is a rare, slow-growing type of blood cancer that mainly affects the spleen, and while it often develops gradually without symptoms, it can usually be treated effectively with modern therapies.

  • 0

    Stevens-Johnson syndrome

    Stevens-Johnson syndrome is a rare but serious skin reaction that can threaten your life. It usually starts with symptoms similar to the flu, followed by a painful rash that spreads, blisters, and causes the skin to peel off. Most cases are triggered by medications, though infections can also be responsible.

  • 8

    Synovial sarcoma

    Synovial sarcoma is a rare soft tissue cancer that grows slowly and often goes unnoticed for years. While it most commonly affects young adults near large joints, it can appear almost anywhere in the body, making early detection challenging but crucial for better outcomes.

  • 1

    Synovial sarcoma metastatic

    Metastatic synovial sarcoma occurs when this rare, aggressive cancer spreads beyond its original location to other parts of the body, most commonly the lungs and lymph nodes, significantly impacting survival and treatment options.

  • 1

    Synovial sarcoma recurrent

    When synovial sarcoma returns after initial treatment, patients face new challenges that require careful multidisciplinary management and individualized treatment approaches.

  • 5

    Systemic mastocytosis

    Systemic mastocytosis is a rare blood disorder that occurs when abnormal mast cells build up throughout the body, releasing chemicals that cause a continuous allergic response affecting the skin, digestive system, bones, and other organs.

  • 1

    Systemic sclerosis pulmonary

    Systemic sclerosis affecting the lungs is one of the leading causes of death in people with this rare autoimmune disease, occurring in approximately 35-65% of patients and accounting for 20-40% of all systemic sclerosis-related deaths.