Disease Directory

Smouldering systemic mastocytosis is a subtype of systemic mastocytosis characterized by a gradual accumulation of neoplastic mast cells in various or...

Sneddon syndrome is a rare, non-inflammatory thrombotic vasculopathy. This condition is marked by the combination of cerebrovascular disease, which ca...

Snijders Blok-Campeau syndrome is a rare genetic condition that has been linked to changes in the CHD3 gene. It is also known by several other names,...

Sorsby fundus dystrophy is a rare, inherited eye condition that affects the macula, a part of the retina. This condition is progressive and usually st...

Sotos syndrome is a rare multisystem genetic disorder characterized by distinctive facial features, overgrowth in early childhood, and varying degrees...

Spasmus nutans is a rare eye condition that is recognized by a specific set of eye and head movements. This condition is defined by a combination of u...

Information about overview is currently limited for this condition.

Spondyloenchondrodysplasia with immune dysregulation is a very rare multisystem condition that primarily affects bone development and the immune syste...

Sprengel deformity is a rare congenital condition in which the shoulder blade (scapula) is positioned higher than normal. It is also known by several...

Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive retinal dystrophy characterized by progressive central vision loss. It...

Stargardt disease 3 (STGD3) is a form of macular dystrophy caused by variants in the ELOVL4 gene, which is inherited in an autosomal dominant manner....

Stargardt disease 4 is a genetic condition characterized by retinal degeneration that can affect vision. It is caused by mutations in the PROM1 gene,...

Steel syndrome is a rare genetic bone disease that mainly affects bone development. It is known for causing short stature, hip and radial head disloca...

Stern-Lubinsky-Durrie syndrome is a rare genetic condition that affects several parts of the body. People with this condition face problems with their...

Stevens-Johnson syndrome is a severe condition characterized by the destruction and detachment of the skin epithelium and mucous membranes, involving...

Information about the condition is currently limited for this condition.

Stickler syndrome is an inherited vitreoretinopathy associated with ocular signs, often linked to Pierre-Robin sequence, bone disorders, and sensorine...

Stickler syndrome type 1 is a rare genetic condition that falls under a group of disorders affecting connective tissues. It is known by several names,...

Stickler syndrome type 2 is an inherited condition that primarily affects the eyes. It is a type of vitreoretinopathy, meaning that it involves abnorm...

Stickler syndrome, type 4 is a rare genetic disorder that is passed down in an autosomal recessive manner. This means that people who develop the cond...