Sacral Agenesis is a rare spinal deformity affecting the sacrum.

Sacrococcygeal Teratoma tumor located at the base of the tailbone.

Salivary Gland Cancer is a rare form of cancer in the salivary glands.

Sandhoff Disease is a rare genetic lipid storage disorder.

SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis) syndrome is a chronic, inflammatory condition affecting the bones, joints, and skin. Inflammation is a natural immune re...

Sarcoidosis is an inflammatory disease that is defined by clumps of inflammatory cells called granulomas. The immune system is overworking and forms these granulomas in different organs of the b...

Sarcosinemia is a rare disorder characterized by increased sarcosine in the blood plasma and urine.

Schamberg Disease is a chronic discoloration of the skin, most commonly affecting the legs.

Schinzel-Giedion Syndrome is a rare congenital neurodegenerative disorder.

Schizencephaly is a rare cortical malformation of the brain.

Schnitzler Syndrome is a rare disease characterised by chronic hives.

Schwannomatosis is a rare disorder affecting the peripheral nervous system where benign tumors called schwannomas grow on perippheral nerves.

Scleromyxedema (SM) is a rare condition involving excessive deposition of a substance called mucin in connective tissue, in particular in the skin. Scleromyxedema is usually systemic, affecting ...

Sclerosing Mesenteritis is a rare disorder caused when the small bowel's membranes become inflamed and fibrous resulting in an abdominal mass.

Secondary Adrenal Insufficiency is adrenal hypofunction caused by a lack of ACTH.

Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis is a rare disorder characterized by progressive ataxia in addition to eye muscle and speech problems.

De Morsier’s syndrome, also known as septo-optic dysplasia, is a disorder affecting early brain and eye development. It is characterized by the underdevelopment of the eye nerve (optic ner...

Serpiginous Choroiditis is a rare inflammatory disease of the retina.

Sertoli cell-only syndrome is a rare disorder characterized by male sterility without sexual abnormality due to the absence of seminiferous tubules in the testes of germinal epithelium, while Serto...

Sertoli-Leydig Cell Tumor is a rare ovarian tumor belonging to the group of sex-chord stromal tumors.

Sever's Disease is a heal disorder caused by overuse and/or repetitive micro trauma of growth plates of the calcaneus in the heel.

Severe Combined Immunodeficiency is a rare genetic disorder in which both the B cells and T cells of the immune system are crippled.

Severe Congenital Neutropenia is a blood disorder characterized by an abnormally low number of a specific type of white blood cells, neutrophils.

Shapiro Syndrome is a rare disorder characterized by occurances of hypothermia.

Sheehan's Syndrome is hypopituitarism during and after childbirth.

Short Bowel Syndrome is a disorder causing malabsorption due to the surgical removal of the small intestine or a congenital short bowel.

Shprintzen-Goldberg syndrome is a disorder associated with premature closure of sutures of the skull and marfanoid habitus.

Shwachman-Diamond Syndrome is a rare disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature.

Sialidosis is a rare disorder resulting from a deficiency of the digestive enzyme sialidase.

Sickle cell anemia is a blood disorder characterized by red blood cells that assume a rigid, sickle shape.

Sideroblastic Anemia is a rare disorder caused by the abnormal production of red blood cells in conjunction with sideroblasts.

Silver-Russell Dwarfism, commonly known as Silver-Russell Syndrome (SRS), is a rare growth disorder that begins at the earliest stages of development in the womb and...

Simpson-Golabi-Behmel Syndrome is a rare genetic disorder with varying symptoms which may include craniofacial and other abnormalities.

Sirenomelia is a rare congenital disorder in which the legs are fused together, giving the appearance of a mermaid.

Situs Inversus is a congenital condition in which the major visceral organs are reversed from their normal positions.

Sjogren-Larsson Syndrome is a rare disorder characterized by dry, rough skin and stiff, rigid muscles.

Sjogren’s syndrome is characterized by dry eyes, mouth, or other body parts. It is an autoimmune disorder where the immune system mistakenly attacks the affect...

Smith-Lemli-Opitz syndrome is a metabolic and developmental disorder that affects many parts of the body.

Smith-Magenis Syndrome is a rare disorder characterized by abnormal physical, developmental and behavioral features due to microdeletion of chromosome 17.

Sneddon's Syndrome is a rare disorder of the arteries leading to purplish mottled skin (especially in the cold) and severe but transient neurological symptoms. It is generally understood to ...

Sotos Syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life.

Spastic Paraplegia is a group of genetic disorders characterized by progressive spasticity in the lower limbs.

Spinal Cord Infarction is injury to the spinal cord due to oxygen deprivation.

Spinal Muscular Atrophy is a group of rare muscle disorders in which the muscles become progressively weakdue to damage to motor neurons.

Spinocerebellar Ataxia is a progressive group of rare disorders affecting muscle movements.

Spinocerebellar Ataxia Type 6 is a rare disorder characterized by dysarthria, oculomotor disorders, incontinence, peripheral neuropathy, and ataxia of gait, stance and the limbs due to cerebellar d...

Split-Hand/Split-Foot Malformation is a rare autosomal dominant disorder characterized by congenital deformity of the hand where the middle digit is missing.

Rare disorder with axial skeleton failure to form.  

Stargardt Disease is a rare inherited genetic disorder causesing progressive vision loss due to macular degeneration.

Steroid-Sensitive Nephrotic Syndrome is a rare kidney disease.

Stickler Syndrome is a group of genetic disorders affecting collagen.

Stiff Person Syndrome is a rare neurological disorder characterized by progressively severe muscle stiffness, most commonly in the spine and lower extremities.

Superficial Siderosis is a rare disorder causing bleeding into the spinal column that ultimately breaks down in the cerebellum and erodes myelin tissue.

Superior Canal Dehiscence Syndrome is a rare medical condition of the inner ear leading to hearing and balance disorders in those affected. Symptoms are caused by a thinning or absence of the part ...

Superior Mesenteric Artery Syndrome occurs when the 3rd portion of the duodenum becomes compressed between the Superior Mesenteric Artery and the Abdominal Aorta. This compression causes partial...

Supraventricular tachycardia is a heart disorder characterized by an abnormal fast heart rhythm.

Susac's syndrome is a rare disease affecting small blood vessels in the body characterized by encephalopathy, branch retinal artery occlusions, and hearing loss.

Sydenham's Chorea is a disease characterized by rapid, uncoordinated jerking movements affecting primarily the face, feet and hands.

Sympathetic Ophthalmia is an inflammation of both eyes following trauma to one eye.

Synovial Chondromatosis is a rare benign cancer of the tissue that lines the joints (synovium).

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...

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...

Systemic Mastocytosis is a rare disorder involving the internal organs characterized by the presence of too many mast cells.