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Sotos syndrome is a rare genetic condition characterized by rapid height and head growth during the first few years of life. This disorder is also associated with certain facial features and developmental delay. ...

Spina bifida is a type of neural tube disorder that involves incomplete development of the brain, spinal cord, and/or the protective coverings. The neural tube is the primitive form of the spinal cord. There are three types of spina bifida that range in severity. The mildest form is spina bifida occulta or spina bifida aperta, which involves an incomplete fusion of the vertebral bones without an...

SMA is a rare genetic motor neuron disease caused by degeneration of motor neurons in the spinal cord. Nerve cells called motor neurons control how the various muscles of the body move to carry out their functions. This progressive disease results in weakness and wasting of voluntary muscles (muscles that you can control). There are 3 different types of SMAs with different symptoms. In general...

Spondyloepiphyseal dysplasia congenita (SEDC) is a genetic disorder that primarily affects the bones and results in dwarfism, skeletal abnormalities, and vision and hearing problems. Spondylo means spine, epiphyseal refers to the growing ends of bones, dysplasia means abnormal growth, and congenita means present at birth; therefore this is a disorder of the spine and bones that is present at birth...

Stevens-Johnson syndrome is a disorder that can occur as a reaction to different medications, infections or tumors, which involves the skin and mucous membranes (the lining inside the mouth, nose, digestive and respiratory tracts) of the body. It leads to a blistering rash that can be life-threatening. ...

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Full disease list by letter:
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