Disease Directory

Satoyoshi syndrome is a rare condition that mainly affects children and adolescents, typically starting between the ages of 6 and 15. It is known for...

Say-Barber-Miller syndrome is a rare condition that affects growth and development. It is characterized by unusual facial features, a smaller head siz...

Say-Field-Coldwell syndrome is a rare condition that affects the hands and knees. People with this condition have triphalangeal thumbs (thumbs with th...

Schaaf-Yang syndrome is a rare disorder that has been observed in some people with changes in the MAGEL2 gene. It is sometimes called MAGEL2-related P...

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease. In people with this condition, the body...

Scheuermann disease is a rare condition that affects the spine during childhood. It is characterized by osteochondrosis of the vertebral epiphyses, wh...

Schilbach-Rott syndrome is a rare genetic condition that affects the way a person’s face and body develop. People with this syndrome often have a uniq...

Schilder disease is a progressive disorder that affects the central nervous system by damaging the protective covering around nerve fibers, known as m...

Schimke immuno-osseous dysplasia is a rare multisystem disorder that affects several parts of the body. People with this condition often have issues w...

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome primarily characterized by distinctive facial dysmorphism, hydronephrosis, severe...

Schistosoma intercalatum infectious disease is a condition caused by an infection with the parasite Schistosoma intercalatum. The available informatio...

Schistosoma japonicum infectious disease is an infection caused by the parasite Schistosoma japonicum. It is also known by several other names, includ...

Schistosoma mansoni infectious disease is an infection caused by the parasite Schistosoma mansoni. This condition is a type of parasitic infection whe...

Schmid metaphyseal chondrodysplasia is a rare skeletal disorder that affects the growth and development of bones. It is characterized by moderately sh...

Schnitzler syndrome is a rare disorder that is often underdiagnosed in adults. It is characterized by episodes of fever and rash along with other symp...

Schnyder corneal dystrophy is a rare form of stromal corneal dystrophy. It is characterized by clouding of the cornea or the presence of crystals with...

Schuurs-Hoeijmakers syndrome is a rare genetic condition. It is characterized by a range of developmental challenges, including mild to moderate intel...

Schwartz-Jampel syndrome is a rare, genetic neuromuscular condition. It is marked by permanent muscle stiffness (myotonia) and a mask-like facial appe...

Schwartz-Jampel syndrome type 1 is a rare condition that is also known by several other names such as SJA syndrome and SJS1. While a clear definition...

Schöpf-Schulz-Passarge syndrome is a rare autosomal recessive ectodermal dysplasia. This condition is characterized by a unique combination of feature...