A rare progressive eye disorder which is inherited in a recessive X-linked manner. The development of the retinal blood vessels is incomplete resulting in parts of the retina having no blood vessels which is necessary for it's function. The disorder is caused by a genetic defect on chromosome 11q14-q21 and the severity of the condition.
Familial exsudative vitreo-retinopathy (FEVR) or autosomal dominat exsudative vitreo-retinal degeneration (Criswick-Schepens, 1969) is an often overlooked disease, that commonly effects children but more seldom effects also
Germ cells are primitive cells within the body that normally mature into ova (egg) or sperm cells. More than 90% of all germ cell tumors are gonadal; that is, they develop in the ovaries or the testes (the gonads). The remaining 5–10% of germ cell tumors arise outside of the gonads: these are the extragonadal germ cell tumors. These tumors occur mostly in the chest, lower back, and head.
Extrapulmonary neuroendocrine carcinoma (EP-NEC) is a rare and aggressive form of cancer that can arise in various organs outside the lungs. These tumors are characterized by their high-grade features and neuroendocrine differentiation, meaning they share characteristics with neuroendocrine tumors found in the lung, but occur in other parts of the body. EP-NECs are known for their aggressive behavior, including rapid growth and potential for early metastasis.
Extrasystoles - short stature - hyperpigmentation - microcephaly: A rare syndrome characterized mainly by shortness, increased skin pigmentation, small head and.
Abnormal vascularization of the peripheral retina and retinal detachment are the common clinical characteristics of Norrie disease pseudoglioma (NDP), Familial exudative vitreoretinopathy (FEVR), and Retinopathy of prematurity (ROP). NDP is a severe, X-linked recessive neurodevelopmental disorder affecting mostly males. But it can also affect female carriers. It is also often associated with some form of mental retardation and progressive sensorineural deafness in the second decade of life. Additionally, it exhibits intrafamilial variability in the onset and severity and more complex phenotypes in some patients. FEVR is a rare bilateral eye disorder affecting full-term infants with a high penetrance and highly variable expressivity even within the same family.
Eye defects - arachnodactyly - cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
Eyebrows duplication of, with stretchable skin and syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes.
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3.
Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.
A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
A rare condition characterized mainly by seizures that originate from the temporal lobe of the brain .
A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases.
A very rare syndrome characterized by facial, eye, ear and kidney abnormalities.
An inherited muscle disease involving slowly progressive muscle weakness. The condition is characterized by the early involvement of facial and shoulder muscles. Muscle weakness then spreads to the pelvis and legs. The onset, severity and rate of progression is variable.
Alternative Names: Hypoprothrombinemia; Prothrombin deficiency. Factor II deficiency is a blood clotting (coagulation) problem caused by a lack of a substance (prothrombin) that is needed for blod to clot.
Alternative Names: Parahemophilia; Owren's disease Factor V deficiency is an inherited condition that affects the ability of the blood to clot.
Factor V Leiden thrombophilia is a common genetic disorder that leads to a predisposition or increased chance to develop blood clots in the veins (venous thrombosis).
Factor X deficiency is a rare condition that affects the blood's ability to clot. The severity of the condition and the associated signs and symptoms can vary significantly from person to person. Common features of factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Affected women may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriage.
Acquired (non-inherited) factor X deficiency, which is the most common form of the condition, generally occurs in people with no family history of the condition. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and cancers.
The inherited form of factor X deficiency (congenital factor X deficiency) is caused by mutations in the F10 gene and is inherited in an autosomal recessive manner. Treatment aims to control bleeding through intravenous (IV) infusions of plasma or concentrates of clotting factors.
Congenital factor X deficiency is among the most rare factor disorders, affecting an estimated one individual per 500,000-1,000,000 population worldwide. Only 50 cases of congenital factor X deficiency have been documented worldwide.
Factor XI deficiency, congenital: A rare inherited bleeding disorder characterized by a deficiency of a blood protein called Factor XI which is needed for the blood clotting process. The condition is generally quite mild but the severity of the condition is variable.
Factor XII deficiency is an inherited disorder with no symptoms. Factor XII is a protein involved in blood clotting. A deficiency of this factor does not cause abnormal bleeding in the affected person, but the blood takes longer than normal to clot in a test tube.
Factor XIII deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor XIII deficiency form blood clots like normal, but these clots are unstable and often break down, resulting in prolonged, uncontrolled bleeding episodes. Factor XIII also affects other processes in the body and is known to play a role in proper wound healing and pregnancy. The severity of factor XIII deficiency bleeds can vary greatly from one person to another. Some individuals may have only mild symptoms; other individuals may have severe, life-threatening bleeds. With early diagnosis and prompt treatment, the more serious bleeds of factor XIII deficiency can be avoided. FXIII consists of two subunits: subunit A and subunit B. Most of the Factor XIII deficiency states are caused by mutations in subunit A; very few have a mutation in subunit B. Factor XIII deficiency is inherited as an autosomal recessive disorder.
Source: NORD
Fairbank disease: A rare inherited disorder that affects the secondary growth centers of bones usually in the hips, knees and ankles and results in mild dwarfism.
Fallopian tube cancer develops in the tubes that connect a woman's ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecological cancers.
Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of the different cell types that make up the fallopian tubes. The most common type is called adenocarcinoma (a cancer of cells from glands). Leiomyosarcoma (a cancer of smooth muscle cells) and transitional cell carcinoma (a cancer of the cells lining the fallopian tubes) are more rare.
While some fallopian tube cancers actually begin in the tubes themselves, fallopian tube cancer is more often the result of cancer spreading from other parts of the body to the tubes.
Fallot complex with severe mental and growth retardation (medical condition): A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
Named for the French physician who first described it in 1888, tetralogy of Fallot is a type of heart defect that is present at birth (congenital heart disease). According to the American Heart Association, it occurs in less than 5 out of 10,000 babies. It involves a tetralogy (a complex of four conditions) that includes: Ventricular septal defect (VSD). A hole in the wall (septum) between the heart’s two lower chambers (the ventricles). The VSD is the prime defect with tetralogy of Fallot and leads to all the other conditions seen. This particular VSD however is different than most other VSDs in that its position is shiftCongenital heart disease is any heart abnormality, defect or malformation present from birth.ed in such a way that there is a tendency for much of the blood from the right ventricle to be shunted toward the left ventricle. This tendency to have the blood criss-cross at the VSD results in a significant amount of oxygen poor blood being pumped out to the body without going to the lungs first. Hypertrophy (enlargement and thickening) of the right ventricle. An enlargement of the muscle tissue of the right ventricle due to overexertion, usually as a result of increased blood flow to the right side of the heart (caused by the VSD) and by blockage of the blood being pumped out to the lungs. Much of the hypertrophy is secondary to the unusual location of the VSD causing some of the muscle bundles in the right ventricle to abnormally thicken. This will block the channel through which the right ventricle pumps blood out to the lungs. Pulmonary stenosis. A narrowing (stenosis) of the pulmonary valve or the channel in the right ventricle leading to the pulmonary valve. This narrowing decreases the amount of oxygen-poor blood from the right ventricle that can travel through the pulmonary artery to the lungs. Thus, there is a decreased blood flow to the lungs. Displaced, deviated or overriding aorta. This is another effect of the location of the VSD. Instead of opening into the left ventricle, which pumps oxygen-rich blood into the aorta, the main artery out to the body opens into both the right and left ventricle. This allows excess blood in the right ventricle (usually as a result of pulmonary stenosis) to be pumped out to the body. Because the body is receiving so much oxygen-poor blood, the skin of the child often has a bluish tint (cyanosis, or blue baby when occurring in infants). Prenatal heart circulation is different than adults and the heart continues to evolve after birth. The combination of these four heart defects lead to reduced blood flow to the lungs because less oxygen-poor blood can squeeze through the pulmonary valve to get to the lungs, and more oxygen-poor blood is pumped to the tissues of the body.
Familial adenomatous polyposis is a rare, inherited condition that causes extra tissue (polyps) to form in your large intestine (colon) and rectum. Polyps can also occur in the upper gastrointestinal tract, especially the upper part of your small intestine (duodenum). If untreated, the polyps in the colon and rectum are likely to become cancerous in your 40s. Some people have a milder form of the condition called attenuated familial adenomatous polyposis (AFAP) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years.
Most people with familial adenomatous polyposis eventually need surgery to remove the large intestine to prevent cancer. The polyps in the duodenum also can develop cancer, but they can usually be managed by careful monitoring and removing polyps regularly.
About:
Familial adenomatous polyposis is caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the genetic abnormality from a parent. But in about 25 percent of cases, the genetic mutation occurs spontaneously.
The abnormal gene causes hundreds or even thousands of polyps to grow in your colon and rectum, usually starting by your mid-teens. The polyps are nearly 100 percent certain to develop into colon cancer or rectal cancer by the time you're in your 40s.
Familial adenomatous polyposis can cause other complications:
Anomalous origin of the left coronary artery arising from the pulmonary artery (ALCAPA) is a rare but serious congenital anomaly.
Also called: Type A Aortic Dissection, Dissecting Aortic Aneurism, Descending Aortic Dissection, Acute Aortic Dissection, Ascending Aortic Dissection, Type B Aortic Dissection, Torn Aorta An aortic dissection is a tear in the inner lining of the aorta (the main artery that carries oxygen-rich blood from the heart to the rest of the body), creating a space between the inner and outer layers.
Dissections can be either ascending or descending depending on whether the vessel damage occurred in the part of the aorta that rises up from the heart (a type A dissection) or the part that descends down through the chest (a type B dissection). While both are serious, the ascending aortic dissection is considered the more dangerous of the two and usually requires emergency surgery. Descending aortic dissections are more common and can usually be treated with medical therapy. Aortic Aneurysm The incidence of an aortic dissection is estimated to occur in 2 to 4 per 100,000 person-years, and roughly 2,000 new cases of aortic dissections are reported each year in the United States. However, the condition may be underreported because it is difficult to determine whether death was caused by an aortic dissection, a heart attack or sudden cardiac death without an autopsy. When untreated, an acute aortic dissection is fatal to more than a third of patients within 24 hours, half of patients within 48 hours and three-quarters of patients within two weeks of onset.
Familial band heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, a layer of brain tissue is abnormally located in the white matter.