Disease – Page 194 – CheckOrphan

STAR syndrome

Stargardt Disease

Stargardt disease is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision.

Stargardt disease 3

Stargardt disease 3: A rare genetic eye disorder that affects children and involves degeneration of the macula which is responsible for central vision which allows detailed visual function such as reading. Type 3 is caused by a defect in the ELOVL4 gene.

Stargardt disease 4

Stargardt disease 4: A rare genetic eye disorder that affects children and involves degeneration of the macula which is responsible for central vision which allows detailed visual function such as reading. Type 4 is caused by a defect on chromosome 4.

Status epilepticus

Status epilepticus is a serious seizure disorder in which seizures do not stop. A seizure is a sudden disruption of the brain's normal electrical activity, which can cause a loss of consciousness and make the body twitch and jerk. This condition is a medical emergency.

Steatocystoma multiplex

Steatocystoma multiplex: A rare inherited disorder characterized by numerous skin cysts that may contain a thick substance called sebum. The cysts occur mainly on the chest, abdomen and front of neck.

Steatocystoma multiplex with natal teeth

Steatocystoma multiplex - natal teeth: A rare inherited disorder characterized by the presence of teeth at birth and the development of numerous skin cysts that may contain a thick substance called sebum. The cysts occur mainly on the chest, abdomen and front of neck.

Steinfeld syndrome

Steinfeld syndrome: A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect.

Stenotrophomonas maltophilia

Stenotrophomonas maltophilia: A bacteria that is usually found in aquatic environments, is not very virulent and rarely infects humans. Most cases of infection tends to occur through use of hospital appliances such as catheters, I.V lines and breathing tubes in immunocompromised people.

Sterility due to immotile flagella

Sterility due to immotile flagella (medical condition): A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.

Stern Lubinsky Durrie syndrome

Stern Lubinsky Durrie syndrome (medical condition): A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems.

Sternal cleft

Sternal cleft: A rare birth defect where there is a cleft or a groove in the sternum which is the bone in the middle of the chest wall that joins the two sides of the rib cage. The cleft may be partial or complete.

Sternal cyst vascular anomalies

Sternal cyst - vascular anomalies: A rare disorder involving blood vessel anomalies and a cyst in the sternum.

Sternal malformation vascular dysplasia associatio

Sternal malformation vascular dysplasia association: A rare disorder characterized by a cleft of the sternum and facial hemangiomata.

Steroid dehydrogenase deficiency dental anomalies

Steroid dehydrogenase deficiency - dental anomalies: A very rare liver disease involving an enzyme (steroid dehydrogenase) deficiency and dental anomalies.

Stevens-Johnson syndrome

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are mucocutaneous drug-induced or idiopathic reaction patterns characterized by skin tenderness and erythema of skin and mucosa, followed by extensive cutaneous and mucosal exfoliulltion and are potentially life-threatening due to multi system involvement. SJS has been classified as a severe expression of erythema multiforme (EM), and is sometimes referred to as erythema multiforme major . The Stevens Johnson Syndrome Foundation said they have seen a rise in the disease involving children and ibuprofen use during 2004, but the disease is still not well known.

Stewart Treves syndrome

Stewart-Treves syndrome: A rare malignant tumor that tends to occur as a complication of chronic lymph gland blockage such as can occur after a mastectomy to remove breast cancer.

Stickler syndrome- type 1

Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2.

Stickler syndrome- type 2

Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21.

Stickler syndrome- type 3

Stickler Syndrome, type III: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2.

Stiff skin syndrome

Stiff skin syndrome (medical condition): A rare inherited disorder characterized mainly by very stiff, thick skin that can affect the ability to move joints

Stiff-person syndrome

Stiff person syndrome (SPS) (or stiff-man syndrome outside the USA) is a rare neurologic disorder of unknown etiology.

Still’s disease

Still's disease, a disorder featuring inflammation, is characterized by high spiking fevers, evanescent (transient) salmon-colored rash, and/or arthritis. Still's disease was first described in children, but it is now known to occur, much less commonly, in adults (in whom it is referred to as adult-onset Still's disease).

Diseases