Diseases

Sengers Hamel Otten syndrome

A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.

Sengers Syndrome

Cataract cardiomyopathy characterized by congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. When patients perform submaximal prolonged exercise, they develp lactic acidemia. A bilateral and total cataract appears and progresses quickly in the first few weeks of life, requiring surgery. 

 

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Senior Loken Syndrome

A rare inherited disorder characterized by kidney dysfunction and progressive eye disease

Senior-Loken syndrome 4

A rare inherited disorder characterized by kidney dysfunction and progressive eye disease. Type 4 is caused by a chromosomal defect on chromosome 1p36.

Sennetsu Fever

A rare infectious disease caused by a bacteria called Ehrlichia sennetsu.

Sensorineural hearing loss

Sensorineural hearing loss (SNHL) is a type of hearing loss, or deafness, in which the root cause lies in the inner ear (cochlea and associated structures), vestibulocochlear nerve (cranial nerve VIII), or central auditory processing centers of the brain. SNHL accounts for about 90% of hearing loss reported. A hallmark of such hearing loss is that it is asymmetrically distributed usually toward the high frequency region, or may have a notch at some frequency. SNHL is generally permanent and can be mild, moderate, severe, profound, or total.

Senter syndrome

A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.

Seow Najjar syndrome

A rare inherited disorder characterized by abnormal tooth enamel, cataracts and a brain abnormality. The brain abnormality involves a narrowed duct (aqueduct of Sylvius) which connects the third and fourth ventricle and allows brain and spinal fluid to pass through.

Septo-optic dysplasia

Septo-optic dysplasia is a rare, heterogeneous condition characterised by a combination of pituitary gland hypoplasia, optic nerve hypoplasia and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum.1

Septooptic dysplasia digital anomalies

A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.

Sequeiros Sack syndrome

A very rare syndrome characterized mainly by nail abnormality, thin skin and sparse scalp hair.

Seres-Santamaria Arimany Muniz syndrome

A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.

Serious digitalis intoxication

An adverse reaction to a drug called digitalis. The main symptoms involve heart and/or vision problems and death can occur in some cases.

Sertoli-leydig cell tumors

Sertoli-Leydig cell tumour, also known as arrhenoblastoma or androblastoma, is a member of the sex cord-stromal tumour group of ovarian and testicular cancers. The tumour is rare, comprising less than 1% of ovarian tumours,[citation needed]. While the tumour can occur at any age, it occurs most often in young adults.

Severe Aplastic Anemia

Severe Aplastic Anemia (SAA) is a rare, life-threatening bone marrow disorder where the body’s immune system attacks its own bone marrow, preventing it from producing enough blood cells. This leads to pancytopenia, characterized by low levels of red blood cells (causing fatigue and weakness), white blood cells (increasing infection risk), and platelets (leading to easy bruising and bleeding). Treatment options include immunosuppressive therapy (IST) to halt the autoimmune attack and, for eligible patients, a stem cell transplant (also called a bone marrow transplant) which offers the only potential cure.

Severe combined immunodeficiency

Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann–Riniker syndrome, severe mixed immunodeficiency syndrome, and thymic alymphoplasia, is a genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in heterogeneous clinical presentations. SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently, both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least nine different known genes in which mutations lead to a form of SCID. It is also known as the bubble baby disease and bubble boy disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment. SCID is the result of an immune system so highly compromised that it is considered almost absent.

SCID patients are usually affected by severe bacterial, viral, or fungal infections early in life and often present with interstitial lung disease, chronic diarrhea, and failure to thrive. Ear infections, recurrent Pneumocystis jirovecii (previously carinii) pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful hematopoietic stem cell transplantation.

Severe combined immunodeficiency- atypical

A rare blood disorder where the body's immune system is not functioning properly due to a deficiency of certain T lymphocytes and other T lymphocytes which are unable to be utilized.

Severe combined immunodeficiency- X-linked

A rare inherited disorder where a genetic mutation results in a deficiency of normal lymphocytes which results in a poorly functioning immune system. Sufferers are prone to infections which would probably be harmless in people with fully functioning immune systems.

Severe congenital neutropenia

A rare inherited blood disorder involving a lack of neutrophils which are a type of white blood cell needed to fight bacterial infections.

Severe Hypertriglyceridemia

Severe hypertriglyceridemia (SHTG) is a metabolic disorder characterized by critically high levels of triglycerides in the blood, defined in most clinical guidelines as a fasting triglyceride level 500 mg/dL ( 5.7 mmol/L). It is distinct from mild-to-moderate hypertriglyceridemia because it presents a high risk for acute pancreatitis, a life-threatening, often, inflammatory condition of the pancreas.