Brief overview Course:Individually different degrees of motor and mental disability and organic concomitant diseases. Prognosis:Dependent on severity of disability, medical care and early intervention, life expectancy over 60 years, higher mortality in childhood. Causes: Three (instead of two) copies of chromosome 21 are found in all or some body cells of affected individuals. Symptoms: Short … Down Syndrome (Trisomy 21)
Hydrops fetalis refers to fluid accumulation in several fetal compartments, serous cavities, or soft tissues. It is a serious symptom of several connatal conditions that cause anemia in the fetus. Hydrops fetalis can be diagnosed sonographically. What is hydrops fetalis? Hydrops fetalis is a term used in prenatal diagnosis and describes a generalized accumulation of … Hydrops Fetalis: Causes, Symptoms & Treatment
As part of prenatal diagnostics, an examination of the child in the womb, further diagnostics may become necessary. This is done by means of fine ultrasound, a special sonographic examination that enables the physician to follow up on indications of a possible developmental disorder of the child or physical abnormalities. What is fine ultrasound? As … Fine Ultrasound: Treatment, Effects & Risks
Calcineurin (CaN) is a protein phosphatase that plays an important role in the activation of immune system T cells, but is also active in other calcium-mediated signaling pathways throughout the body. By dephosphorylating the NF-AT protein, this enzyme initiates a series of gene transcripts that are primarily responsible for the characteristic work of T lymphocytes. … Calcineurin: Function & Diseases
Keratoconus is a progressive thinning and deformation of the cornea of the eye (cornea). A cone-shaped protrusion of the cornea takes place. Keratoconus is often accompanied by other diseases and, in some cases, genetic disorders. What is keratoconus? Keratoconus is characterized by the cone-shaped deformation and thinning of the cornea of the eye. Both eyes … Keratoconus: Causes, Symptoms & Treatment
In congenital knee dislocation, patients’ lower legs are twisted and their knee joint surfaces are in insufficient contact. Noninvasive stretches are now available as therapeutic measures. Only in extreme cases does the joint need to be surgically repositioned. What is congenital knee dislocation? Medicine refers to a dislocation when there is a complete or incomplete … Congenital Knee Dislocation: Causes, Symptoms & Treatment
Oligohydramnios sequence represents the description of the effects of insufficient amniotic fluid production. These are severe malformations that develop due to low amniotic fluid volumes during embryogenesis. The condition is fatal. What is an oligohydramnios sequence? Oligohydramnios sequence refers to the effects of insufficient amniotic fluid production during pregnancy. Due to constricted space because of … Oligohydramnios Sequence: Causes, Symptoms & Treatment
Moyamoya disease is a disease that affects the vessels of the brain. As a result of the disease, the vessels in the area of the brain spontaneously close. The occlusion occurs over a long period of time due to fibrous remodeling in the area of the base of the brain. Often, the remodeling occurs in … Moyamoya Disease: Causes, Symptoms & Treatment
The nasal bone (Latin: Os nasale) is the largest bone of the human olfactory system. It consists of a very thin pair of bones that run between the eyes and roof the nasal cavity. An injury to the nasal bone should always be examined by a doctor. This is because if left untreated, it can … Nasal Bone: Structure, Function & Diseases
Beta-secretase belongs to the protease family. It is involved in the formation of beta-amyloid, which plays important roles in information transmission in the brain. At the same time, beta-secretase and beta-amyloid play important roles in the development of Alzheimer’s disease. What is beta-secretase? Beta-secretase belongs to the group of proteases that break down proteins at … Beta-secretase: Function & Diseases
Atrioventricular septal defect is a congenital heart defect. It is a combination of atrial septal defect and ventricular septal defect. What is an atrioventricular septal defect? Atrioventricular septal defect is a congenital heart malformation and one of the most complex congenital heart defects. Because the combination of atrial septal defect and ventricular septal defect creates … Atrioventricular Septal Defect: Causes, Symptoms & Treatment
Tympanic effusion refers to an accumulation of fluid in the middle ear in the area of the eardrum. The consistency of the fluid ranges from serous (watery) to mucous or even purulent. Tympanic effusion is usually caused by a blocked Eustachi tube. This causes a slight negative pressure in the middle ear, causing tissue fluid … Tympanic Effusion: Causes, Symptoms & Treatment