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Sacrococcygeal Teratoma

Saethre Chotzen Syndrome

Sakati Syndrome

Sandhoff Disease

Schimke Immuno-osseous Dysplasia

Schimmelpenning Syndrome

Schindler disease

Schinzel Giedion Syndrome

Schinzel Syndrome

Schnitzler Syndrome

Schwartz Jampel Syndrome

Scleroderma

Scott Craniodigital Syndrome

Seckel Syndrome

Segawa Syndrome

Senior Løken Syndrome

Sennetsu Fever

Sepiapterin Reductase Deficiency

Setleis Syndrome

Severe Chronic Neutropenia

Severe Combined Immunodeficiency

Sheehan Syndrome

Short Bowel Syndrome

Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

SHORT Syndrome

Shprintzen Goldberg Syndrome

Shwachman Diamond Syndrome

Sialadenitis

Sialidosis

Sickle Cell Disease

Simian B Virus Infection

Simple Pulmonary Eosinophilia

Simpson Dysmorphia Syndrome

Singleton Merten syndrome

Sinonasal Undifferentiated Carcinoma

Sirenomelia

Sitosterolemia

Sjögren-Larsson Syndrome

SLC13A5 Epileptic Encephalopathy

Smallpox

Smith Lemli Opitz Syndrome

Smith Magenis Syndrome

Sneddon Syndrome

Snyder-Robinson Syndrome

Sotos Syndrome

Spina Bifida

Spinal Muscular Atrophy

Spinocerebellar Ataxia with Axonal Neuropathy

Split Hand/Split Foot Malformation

Spondylocostal Dysplasia

Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal Dysplasia, Congenital

Spondylothoracic Dysplasia

Spontaneous Intracranial Hypotension

Sporadic Inclusion Body Myositis

Sporadic Porencephaly

Sprengel Deformity

Staphylococcal Scalded Skin Syndrome

Status Epilepticus

STEC Hemolytic Uremic Syndrome

Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis

Stickler Syndrome

Stiff Person Syndrome

Sturge Weber Syndrome

Stuve-Wiedemann Syndrome

Subacute Sclerosing Panencephalitis

Succinic Semialdehyde Dehydrogenase Deficiency

Sudden Infant Death Syndrome

Sudden Unexplained Death in Childhood

Superior Semicircular Canal Dehiscence

Susac Syndrome

Sutton Disease II

Sweet Syndrome

Swyer syndrome

Sydenham Chorea

SYNGAP1-related NSID

Syphilis, Acquired

Syringobulbia

Syringomyelia

Systemic Capillary Leak Syndrome

Systemic Primary Carnitine Deficiency

NORD's Rare Disease Database provides brief introductions for patients and their families to more than 1,200 rare diseases. This is not a comprehensive database since there are nearly 7,000 diseases considered rare in the U.S. We add new topics as we are able to do so, with the help of rare disease medical experts.

If you are seeking information about a rare disease that is not in this database, we would suggest contacting the Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health. NIH has the most complete database of rare diseases in the U.S.

Representatives of patient organizations whose medical advisors are interested in assisting NORD in creating a report on a disease not currently covered in this database may write to orphan@rarediseases.org.

Alone we are rare. Together we are strong.®