Major symptoms caused by CES effect the eyes (either bilateral or unilateral colobama), ears (crimped appearance and ear tags), craniofacial region (malformations of the skull and face), anal region (anal atresia and other malfunctions around the area), heart, and the kidneys (underdevelopment or absence of kidneys). Shorter stature and insufficient levels of growth hormones are a common symptom as well. Rarer malformations can effect almost every other organ. Behavioural problems can occur, but are not characteristic of CES. Mild to severe mental impairment is rare for patients suffering CES, but not
Alveolar echinococcosis (AE) is characterized by parasitic tumors in the liver and may spread to other organs including the lungs and brain. In humans, the larval forms of E. multilocularis do not fully mature into cysts but cause vesicles that invade and destroy surrounding tissues and cause discomfort or pain, weight loss, and malaise. AE can cause liver failure and death because of the spread into nearby tissues and, rarely, the brain. AE is a dangerous disease resulting in a mortality rate between 50% and 75%, especially because most affected people live in remote locations and have poor health care. (Thompson RA.
Adie syndrome, also called Holmes-Adie syndrome or Adie 's tonic pupil, is a rare neurological disorder, which affects the autonomic nervous system and the eye’s pupil (the opening in the centre of the eye). In most patients, the pupil of the eye is larger than normal (dilated) and react slowly in response to direct light. Poor or absent tendon reflexes are also linked to this disorder. Causes The exact cause of Adie 's pupil has been unknown. There are many potential causes, including a type of bacterial or viral infection that damages the nerves, but often Adie 's pupil is idiopathic, meaning it has no known cause.
Not all goiters will develop signs and symptoms. Some of the most common types include swelling that is visible at the base of the neck. Also, when large goiters start to develop its only obvious that the surrounding anatomical structures in the neck such as the trachea and esophagus begin to feel some pressure. This may cause a tight feeling in throat area, coughing, hoarseness, difficulty swallowing, shortness of breath, and stridor (a wheezing sound that comes from a disturbance in air flow in and out of the trachea). In hypothyroidism, general processes start slowing down.
This can lead to heart and damage the heart muscle permanently crisis; • high blood pressure, which is also called hypertension; • disease of the heart valves - there may be a leak in the valves or those may stiffen, especially the sigmoid valves and mitral; • a disorder of cardiac muscle, which is also called cardiomyopathy. That may be caused by a virus, bacterium or other infections; • damage to the heart caused by the abuse of alcohol or drugs; • congenital heart disease and heart defects that exist at birth; • an irregular heartbeat, especially if there is rapid or chaotic. The heart does not pump enough blood when his rhythm is abnormal; • certain lung disorders, such as pulmonary hypertension, which occurs when the right ventricle dilates, causing heart failure on the right. Normal Heart congestive heart é START T How is the diagnosis? During physical examination: lungs - produce a sizzling; heart - heart murmur, gallop rhythm, noise third; neck - distended veins; enlarged liver; expansion of the abdomen due to the accumulation of fluid; leg swelling (edema).
Marfan syndrome is not the only genetic disorder that affects connective tissue and has conditions including Thoracic Aortic Aneurysm. Marfan syndrome is a genetic disorder that messes with the connective tissue throughout the body (Marfan Foundation) and was discovered by Antoine Marfan in France back in 1896 (KidsHealth). Features of this genetic disorder are mostly found in the heart, blood vessels, bones, joints, and eyes. (Marfan Foundation) But it affects each person differently. Marfan can be life threatening, as it affects the lungs, skin, and nervous system.
Down syndrome is a condition which extra genetic material slows down the way in which an individual develops, both physically and mentally. As stated by the NHS; each individual with down syndrome is affected differently and can vary, some may need a lot of medical assistance whereas others may lead a normal healthy lifestyle but share similar characteristics. Delayed development: All service users with down syndrome has some degree of learning difficulty and delayed development, however, this varies between each individual. Having down syndrome they may experience some health problems which may effect them in every day life. However yet again each individual is different some may have more health problems than others.
If the body does not receive enough oxygen with these heart problems the baby will be cyanotic, or have a blue coloring. Also babies with CHD can suffer from too little blood to travel to the body. These defects are a result of underdeveloped chambers of the heart or blockages in blood vessels that prevent the proper amount of blood from traveling to the body to meet its needs. Many kids who have congenital heart defects don 't need treatment and some do. Doctors repair congenital heart defects with catheter procedures or surgery.
Hypopituitarism is a medical problem that goes back to the pituitary gland. It is a situation where the pituitary gland doesn 't produce enough of one or more hormones. So depending upon which hormone are hormones are deficient, your body responses will act abnormally according to what they are.This condition is not that common. When it is diagnosed, you 'll need lifetime treatments. When a person has hypopituitarism, it often goes into progressive stages over time.
The individual may need support or assistance with weakness from limbs and walking, sitting, transferring, washing and bathing. They may need a wheelchair for a period of time or for the foreseeable future. They may acquire speech and communication difficulties. The individual may find it difficult to express themselves through facial expressions and body language. Although some people may acquire rehabilitation and physio treatment and make a full recovery or have physical effects that many individuals will not be able to recognise or know
Haemophilia is very hard to identify if someone is a carrier, the genetic disease will remain dormant until it is passed onto the offspring. There are many ways that Haemophilia can be identified or diagnosed in a patient. When an infant goes through circumcision, if prolonged bleeding continues after the circumcision occurs, that may be the first indication of haemophilia in a baby boy. In boys who aren 't circumcised, easy bruising when the child becomes more mobile may lead to the diagnosis. The first episode of bleeding generally occurs by the time a child is 2 years old.
Tay-Sachs is most common in infants and children. It is also typically found in people with certain ancestry such as people of Ashkenazi Jewish heritage and people of Cajun heritage. Some people may have the genetic mutation but not get the disease. Common symptoms of Tay-Sachs include muscle weakness, stiff muscles, loss of muscle coordination, muscle contractions, fainting, speech problems, and mental illness. Blindness, difficulty swallowing, hearing loss, seizures, vision loss, and impaired voice are other symptoms that are common.
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The affected individuals show variable features of this disorder. It ranges from relatively mild to severe. Cornelia de Lange syndrome is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, feeding difficulties and distinctive facial features. The distinctive facial features include synophrys (arched eyebrows that often grow together in the middle), long eyelashes, depressed nasal bridge, an uptilted nasal tip and anteverted nares, thin upper lip with downturned corners of the mouth, widely spaced teeth and posteriorly rotated low-set ears.
Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person 's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis.
Most cyanosis has to do with the lack of oxygen to the blood. Many problems can lead to lack of blood some include: problems with the lungs, airways leading to the lungs, heart problems, drug overdose, and exposure to cold water or air. One is “Tetralogy of Fallot, Which is the most common cyanotic heart defect seen in children beyond infancy. Tetralogy of Fallot is also the most common cyanotic congenital lesion that is likely to result in survival to adulthood and thus is the most common complex lesion to be encountered in the adult population after repair. The original anatomic description of tetralogy of Fallot included a tetrad of malformations: ventricular septal defect, right ventricular outflow tract obstruction, aorta overriding the ventricular septum, and right ventricular hypertrophy.” (Jacobs,