Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria, is a rare autosomal recessive disorder[1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families.
A very rare metabolic disorder involving an enzyme (Succinyl-CoA acetoacetate transferase) deficiency which prevents ketones being metabolized. Physical stress on the body (infection, exhaustion) can trigger an episode of ketosis, vomiting and rapid breathing.
Sudan virus disease is a viral hemorrhagic fever disease, belonging to the same family as Ebola virus disease. It is caused by Sudan virus (SUDV). It is a severe disease with high case fatality. It is typically characterized by acute onset of fever with non-specific symptoms/signs (e.g., abdominal pain, anorexia, fatigue, malaise, myalgia, sore throat) usually followed several days later by nausea, vomiting, diarrhoea, and occasionally a variable rash. Hiccups may occur. Severe illness may include hemorrhagic manifestations (e.g., bleeding from puncture sites, ecchymoses, petechiae, visceral effusions), encephalopathy, shock/hypotension, multi-organ failure, spontaneous abortion in infected pregnant women. Individuals who recover may experience prolonged sequelae (e.g., arthralgia, neurocognitive dysfunction, uveitis sometimes followed by cataract formation), and clinical and subclinical persistent infection may occur in immune-privileged compartments (e.g., CNS, eyes, testes). Person-to-person transmission occurs by direct contact with blood, other bodily fluids, organs, or contaminated surfaces and materials with risk beginning at the onset of clinical signs and increasing with disease severity. Family members, healthcare providers, and participants in burial ceremonies with direct contact with the deceased are at particular risk. The incubation period ranges from 2 to 21 days, but typically is 7–11 days.
Sudden Arrhythmia Death Syndrome (SADS), otherwise known as Long QT Syndrome, is a disorder of the electrical system of the heart. The problem centres on the length of time it takes the electrical system to recharge following a heatbeat. This is known as the QT interval. People who have a long QT interval are more vulnerable to a very fast, abnormal heart rhythm, or arrhythmia. When this rhythm occurs, no blood is pumped out from the heart, and the brain quickly becomes deprived of blood causing sudden loss of consciousness and sudden death.
Sudden infant death syndrome (SIDS), also known as cot death or crib death, is the sudden unexplained death of a child less than one year of age. Diagnosis requires that the death remains unexplained even after a thorough autopsy and detailed death scene investigation. SIDS usually occurs during sleep. Typically death occurs between the hours of 00:00 and 09:00. There is usually no evidence of struggle and no noise produced.
A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flapss and finger, teeth and eye abnormalities.
Sulfite oxidase deficiency is an inborn error of the metabolism of sulfated amino acids. Individuals affected with sulfite oxidase deficiency most commonly present in the neonatal period with intractable seizures, characteristic dysmorphic features, and profound mental retardation.
A very rare genetic disorder abnormalities of the head, hands and feet as well as obesity.
A syndrome involving a short-lived pain around one eye or on one side of the head as well as well as fluid being forced into the conjunctiva and mucous membranes of the eyelids.
A rare disorder where hemosiderin (free iron) is deposited in parts of the central nervous system (brain and spinal cord tissue). It is often caused by repeated periods of bleeding in the brain (subarachnoid space).
A form of melanoma that usually occurs on sun damaged skin. The lesion tends to grow slowly
A rare condition where the third portion of the duodenum is compressed between two large blood vessels - the aorta and superior mesenteric artery.
A condition caused by compression or obstruction to the normal circulation of the superior vena cava which carries deoxygenated blood from the body tissues back to the heart
Supernumerary nipples is the presence of extra nipples.
Cancer that arises in the tissue above the vocal cords.
Impaired eye movement due to a brain problem. The type of eye movement problems is determined by the location of the brain abnormality
A rare disorder characterized by deep facial birthmarks a light-colored ridge of tissue between the bellybutton and breast bone
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 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 (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.
TTP relapsing
AdamTS13 enzyme low
Retuximab Cyclosprine Apheresis
New drugs or Clinical trials
Sutton disease 2: A rare condition characterized by recurring periods of painful inflamed mouth ulcers.
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.
Symphalangism with multiple anomalies of hands and feet: A rare syndrome characterized mainly by fused finger and toe joints as well as other hand and foot anomalies.
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch: A very rare syndrome characterized mainly by small teeth, underdeveloped wrist bones and fusion of the joints in the ends of the fingers.
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
Syncopal paroxysmal tachycardia: Rapid heart rate that starts and ends suddenly and causes fainting.
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 - cataract - mental retardation: A very rare syndrome characterized mainly by webbed fingers and toes, cataract and mental retardation