Diseases

Supranuclear ocular palsy

Impaired eye movement due to a brain problem. The type of eye movement problems is determined by the location of the brain abnormality

Supravalvular aortic stenosis

Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. A normal aortic valve, when open, allows the free flow of blood from the left ventricle to the aorta. When the valve narrows, as it does with stenosis, blood flow is impeded. Because it is more difficult for blood to flow through the valve, there is increased strain on the heart.

It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of SVAS varies from person to person; some individuals may die in infancy while others never experience symptoms. If symptoms develop, they may include shortness of breath, chest pain, murmur, and/or eventual heart failure. Some affected individuals also have defects in other blood vessels, such as the pulmonary artery. 

SVAS can also be associated with Williams syndrome.

surfactant deficiency

Surfactant protein deficiencies account for about 10% of all childhood interstitial lung diseases (chILD).

Pulmonary surfactant is a complex substance in the lungs which prevents collapse of the alveoli, by reducing the surface tension of water. Surfactant also plays a role in defending the lungs from bacteria and viruses. 

Surfactant proteins A, B, C, and D are specialized proteins that make up about 5% of the pulmonary surfactant. Surfactant protein B (SP-B) and C (SP-C) are mainly involved in preventing alveolar collapse while surfactant protein A (SP-A) and D (SP-D) play a role in the lung’s immune defense. 

ABCA3 is a protein that transports surfactant within the alveolar Type II cell, the cell type in the lung that produces pulmonary surfactant. The thyroid transcription factor (TTF1) is a protein that activates surfactant associated genes, among others. Problems with any of these can cause lung damage. 

Susac’s syndrome

Susac's syndrome (also Known as Retinocochleocerebral Vasculopathy, and Susac syndrome) is a microangiopathy characterized by encephalopathy, branch retinal artery occlusions and hearing loss. The cause is unknown but the current thinking is that antibodies are produced against endothelial cells in tiny arteries which leads to damage and the symptoms related to the illness. Despite this being a rare disease, there are 4 registries collecting data on the illness; two are in the United States, one is in Germany and the fourth is in Portugal.

susan leckie

TTP relapsing  

AdamTS13 enzyme low

Retuximab    Cyclosprine    Apheresis

New drugs or Clinical trials

Sutton disease 2

Sutton disease 2: A rare condition characterized by recurring periods of painful inflamed mouth ulcers.

Swyer James McLeod Syndrome

Swyer James Mcleod's Syndrome is a rare lung disorder found by Physicians Paul Robert Swyer, William Mathiseon Macleod and Radiologist George James in the 1950's in the United States. At the same time J. Bret was exploring this illness in France, and consequently it is sometimes referred to as Brett's syndrome.

Swyer-James syndrome is a manifestation of postinfectious obliterative bronchiolitis. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung. The characteristic radiographic appearance is that of pulmonary hyperlucency, caused by overdistention of the alveoli in conjunction with diminished arterial flow and has been linked to adenovirus type 21.

In appearance Swyer James normally leaves shadowing in a CT scan in the upper lobar regions of one or (rarely) both lungs. Patients with the illness operate in much the same way as patients with mild bronchiectasis. As a result, the illness can go undiagnosed for some time. With current pharmaceutical developments, the prognosis is good for sufferers of the illness to lead normal and healthy lives.

Syncamptodactyly scoliosis

Syncamptodactyly - scoliosis: A very rare disorder characterized by the association of a curved spine and partial webbing and permanent flexion of 2nd and 3rd toes

Syndactyly

Syndactyly is the most common congenital malformation of the limbs, with an incidence of 1 in 2000-3000 live births. Syndactyly can be classified as simple when it involves soft tissues only and classified as complex when it involves the bone or nail of adjacent fingers. It is a shared feature of more than 28 syndromes, including Poland, Apert, and Holt-Oram syndromes. Syndactyly is a failure of differentiation in which the fingers fail to separate into individual appendages. This separation usually occurs during the sixth and eighth weeks of embryologic development. The root words of the term syndactyly are derived from the Greek words syn, meaning together, and dactyly, meaning fingers or digits.

Syndactyly Cenani Lenz type

Syndactyly, Cenani Lenz type: A rare birth defect syndrome characterized by various hand bone abnormalities.

Syndactyly type 5

Syndactyly type 5: A birth defect involving webbed fingers and toes - usually between 3rd and 4th fingers and 2nd and 3rd toes.

Syndactyly type I with microcephaly and mental retardation

Filippi syndrome is an extremely rare genetic disorder that may be apparent at birth (congenital). The disorder is characterized by an unusual facial appearance, abnormalities of the fingers and toes, and mild to severe mental retardation.

Syndactyly- type 2

A birth defect involving webbing between the 3rd and 4th fingers as well as duplication of all or some of the fourth digit within the webbed tissue. The foot may also be involved with webbing between the 4th and 5th toe with an extra 5th toe in the webbed tissue.

Syndactyly- type 3

A hand deformity where the fourth and fifth fingers are joined together by a web of tissue. In some cases, some or all of the adjoining bones in the two fingers may also be fused.

Syndactyly- type v

A birth defect involving webbed fingers and toes - usually between 3rd and 4th fingers and 2nd and 3rd toes. There is also fusion of some of the long bones in the hand (metacarpals) and feet (metatarsals)

Syndactyly-polydactyly-ear lobe syndrome

A very rare syndrome characterized by webbing between the 1st and 2nd toes and extra little finger or part of the little finger. The earlobe also had a deep horizontal groove or a nodule. The big toe was also broad or duplicated.

Syngnathia cleft palate

A very rare syndrome characterized by the association of a cleft palate as well as the adhesion at birth of the upper and lower jaw by fibrous tissue.

Syngnathia multiple anomalies

A very rare syndrome characterized mainly by abnormal webbing inside the mouth, short stature, eye problems, mental retardation and small head, jaw, eyes and mouth.

Synovial osteochondromatosis

A rare joint disorder where some of the tissue that lines the joint is replaced by bone-like tissue or cartilage. Usually only one joint is affected and it tends to be the knee, elbow or hip.

Synovial sarcoma

A synovial sarcoma is a rare form of cancer which usually occurs near to the joints of the arm, neck or leg. It is one of the soft tissue sarcomas. It is one of the rarest forms of soft tissue cancer in the world.

The name "synovial sarcoma" was coined early in the 20th century, as some researchers thought that the microscopic similarity of some tumors to synovium, and its propensity to arise adjacent to joints, indicated a synovial origin; however, the actual cells from which the tumor develops are unknown and not necessarily synovial.

Primary synovial sarcomas are most common in the soft tissue near the large joints of the arm and leg but have been documented in most human tissues and organs, including the brain, prostate, and heart.

Synovial sarcoma occurs most commonly in the young, representing about 8% of all soft tissue sarcomas but about 15-20% of cases in adolescents and young adults. The peak of incidence is before the 30th birthday and males are affected more often than females (ratio around 1.2:1).