Hirschsprung disease ganglioneuroblastoma
A rare disorder characterized by an intestinal defect tumors of the nerves
A rare disorder characterized by an intestinal defect tumors of the nerves
A rare disorder characterized by Hirschsprung disease, extra little finger, extra big toe and a heart defect
A developmental defect of the intestinal tract where the muscles of the intestines are unable to function and move food along the digestive tract. This form of Hirschsprung disease is differentiated from the other types by the location of the genetic defect.
A developmental defect of the intestinal tract where the muscles of the intestines are unable to function and move food along the digestive tract. This form of Hirschsprung disease is differentiated from the other types by the location of the genetic defect
A developmental defect of the intestinal tract where the muscles of the intestines are unable to function and move food along the digestive tract. This form of Hirschsprung disease also involves finger and toe abnormalities.
A rare disorder characterized by the association of Hirschsprung megacolon, a small head and a cleft palate.
A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies
Hirschsprung's disease (HD) is a form of megacolon that occurs when part or all of the large intestine or antecedent parts of the gastrointestinal tract have no ganglion cells and therefore cannot function. During normal prenatal development, cells from the neural crest migrate into the large intestine (colon) to form the networks of nerves called the myenteric plexus (Auerbach plexus) (between the smooth muscle layers of the gastrointestinal tract wall) and the submucosal plexus (Meissner plexus) (within the submucosa of the gastrointestinal tract wall). In Hirschsprung's disease, the migration is not complete and part of the colon lacks these nerve bodies that regulate the activity of the colon. The affected segment of the colon cannot relax and pass stool through the colon, creating an obstruction. In most affected people, the disorder affects the part of the colon that is nearest the anus. In rare cases, the lack of nerve bodies involves more of the colon. In five percent of cases, the entire colon is affected. Stomach and esophagus may be affected too.
Hirschsprung's disease occurs in about one in 5,000 of live births. It is usually diagnosed in children, and affects boys more often than girls. About 10% of cases are familial.
A rare disorder characterized by excessive growth of body hair and enlarged gums
A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
A rare severe type of abnormal heart rhythm that occurs in infants less than 6 months old. Untreated, the condition can lead to heart disease and even death.
A metabolic disorder where there is a deficiency of the histidase enzyme which is needed to metabolise the amino acid called histidine. Histidine levels then buildup of histidine in the blood and urine.
A very rare syndrome where a kidney defect causes high levels of histidine in the urine
Histiocytosis is a general name for a group of syndromes that involve an abnormal increase in the number of immune cells called histiocytes. There are three major classes of histiocytoses, namely, Langerhans cell histiocytosis, Malignant histiocytosis syndrome and Non-Langerhans cell histiocytosis.
A group of disorders involving the excessive proliferation of histiocytes (macrophages) which are not Langerhans cells. Subgroups of this disorder includes hemophagocytic lymphohistiocytosis, sinus histiocytosis, xanthogranuloma and sea-blue histiocyte syndrome. Sometimes only the skin is involved and in other cases there may be systemic involvement which can cause serious problems.
A very rare syndrome characterized by small eyes, heart disease and hearing loss.
A rare inherited metabolic disorder where deficiency of a particular enzyme impairs the processing of amino acids in food to create energy and causes various symptoms. Stresses on the body such as infection, fasting and heavy exercise can trigger an episode
An inherited metabolic defect due to the deficiency of an enzyme (HMG CoA synthetase) needed to form ketone bodies. Symptoms are often preceded by periods of fasting or illness
A rare congenital disorder characterized by congenital heart disease, skeletal abnormalities and a cleft palate.
An inherited form of Hodgkin disease which is a common cancer of the lymph node.
Hodgkin's lymphoma — formerly known as Hodgkin's disease — is a cancer of the lymphatic system, which is part of your immune system.
In Hodgkin's lymphoma, cells in the lymphatic system grow abnormally and may spread beyond the lymphatic system. As Hodgkin's lymphoma progresses, it compromises your body's ability to fight infection.
Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four sub-types:
Hodgkin's lymphoma — formerly known as Hodgkin's disease — is a cancer of the lymphatic system, which is part of your immune system.
In Hodgkin's lymphoma, cells in the lymphatic system grow abnormally and may spread beyond the lymphatic system. As Hodgkin's lymphoma progresses, it compromises your body's ability to fight infection.
Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four sub-types:
A cancer of the lymph system that occurs during pregnancy. The dilemma is that treatment can't be initiated until the baby is delivered or terminated. If the pregnancy is in the early stages, termination is recommended. If the pregnancy is in the later stages when the lymphoma occurs, the baby is usually delivered as early as safely possible in order to commence cancer treatment as soon as possible. The more prompt the treatment, the better the prognosis
Hodgkin’s lymphoma — formerly known as Hodgkin’s disease — is a cancer of the lymphatic system, which is part of your immune system.
In Hodgkin’s lymphoma, cells in the lymphatic system grow abnormally and may spread beyond the lymphatic system. As Hodgkin’s lymphoma progresses, it compromises your body’s ability to fight infection.
Most Hodgkin lymphomas are the classical type. The classical type is broken down into the following four sub-types:
A digestive disorder where the intestines are unable to contract normally and push food through the digestive system. This results in symptoms similar to an obstruction and hence the name pseudo-obstruction. The walls of the affected gastrointestinal tract becomes thin and the muscles that control its motion start to degenerate
A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones
A very rare syndrome characterized mainly by extra fingers, an absent shinbone and a brain cyst
A very rare disorder where a twin in the womb doesn't have it's own heart. This second twin is often a very malformed, shapeless mass that acts as a parasite by utilizing the placenta of the normal twin.