Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaicism syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.
Epstein-Barr virus, chronic: A form of human herpes virus that produces persistent symptoms. Most people become infected with the virus at some stage in their life though they usually have few if any symptoms. However, some people develop severe symptoms as a result of an EBV infection.
Chronic Atrial Intestinal Dysrhythmia syndrome (CAIDsyndrome) is a rare disease affecting both, heart rate and intestinal movements. The disease is a serious condition caused by a rare genetic mutation.
CGD is a rare disease. There are about 20 people born with CGD each year in the United States.
People with CGD have an immune system that doesn’t work properly. A healthy immune system usually prevents infections from becoming serious. An immune system with CGD can typically stop viral infections like a cold or flu, but can’t stop serious infections started by certain bacteria and fungi. Since CGD is a chronic condition, it means that a person will have the disease for all of his or her life.
CGD isn’t something you can catch. It’s a genetic condition, which means you’re born with it. It’s passed down to a child from 1 or both parents who can be “carriers.” A carrier doesn’t have the disease, but his or her children can end up with it. Carriers of CGD have 1 normal copy of the gene and 1 copy of the gene that doesn’t work right. There are 2 types of CGD: X-linked and autosomal recessive.
X-linked CGD
The most common form of CGD is X-linked. It’s passed down from the mother because she carries a faulty X chromosome. This means she is a carrier of CGD. Usually only males get X-linked CGD. A male born to a carrier mother has a 50% chance of having CGD.
A hiccup is an involuntary spasmodic contraction of the muscle at the base of the lungs (diaphragm) followed by the rapid closure of the vocal cords. Usually, hiccups last for a few hours or, occasionally, a day or two. However, chronic hiccups are ones that continue for an extended period of time.
Chronic inflammatory demyelinating polyneuropathy is an acquired immune-mediated inflammatory disorder of the peripheral nervous system. CIDP is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy (because it involves the nerve roots). CIDP is closely related to Guillain-Barré syndrome and it is considered the chronic counterpart of that acute disease. Its symptoms are also similar to progressive inflammatory neuropathy. An asymmetrical variant of CIDP is known as Lewis Sumner-Syndrome. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy.
Chronic lymphocytic leukemia (CLL) is a cancer of the lymphocytes that begins in the stem cells of the bone marrow and then invades the blood. The term "chronic" in chronic lymphocytic leukemia comes from the fact that it typically progresses more slowly than other types of leukemia. The term "lymphocytic" refer to the cells affected by the disease — a group of white blood cells called lymphocytes, which help your body fight infection. Overtime, CLL may also spread to the lymph nodes and other organs including the liver, spleen and lungs. It occurs when the stem cells that make lymphocytes become out of control and produce increasing amounts of abnormal lymphocytes (also called leukemic cells). Eventually, these abnormal cells replace normal lymphocytes and can crowd out other types of normal blood cells, leading to the features of the condition. CLL most commonly affects adults over age 45. There are treatments to help control the disease.
Chronic myelogenous (myeloid) leukemia (CML) is an uncommon type of cancer of the blood cells. The term "chronic" in chronic myelogenous leukemia indicates that this cancer tends to progress more slowly than acute forms of leukemia. The term "myelogenous" refers to the type of cells affected by this cancer. Chronic myelogenous leukemia typically affects older adults and rarely occurs in children, though it can occur at any age.
The phase of chronic myelogenous leukemia refers to the aggressiveness of the disease. A higher proportion of diseased cells means chronic myelogenous leukemia is at a more advanced stage.
Phases of chronic myelogenous leukemia include:
Chronic myelomonocytic leukemia (CMML) is cancer of the blood. CMML is considered to be one of the myeloproliferative neoplasms (MPNs), a type of chronic blood cancer in which a person’s bone marrow does not make blood effectively.
Inflammation and destruction of blood vessel walls which leads to death of associated tissue. Symptoms are determined by the extent and location of the blood vessel inflammation. The inflammation possibly has autoimmune origins. It can occur in condition such as rheumatoid arthritis, systemic lupus erythematosus and scleroderma.
A blood disorder characterized by a reduced number of neutrophils (type of white blood cell) which affects the body's ability to fight infection.
Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disorder that features a persistent neutrophilia in peripheral blood, myeloid hyperplasia in bone marrow, hepatosplenomegaly, and the absence of the Philadelphia chromosome or a BCR/ABL fusion gene.
Chronic pancreatitis (CP) is a progressive inflammatory disease of the pancreas, characterized by irreversible morphologic changes and gradual fibrotic replacement of the gland. Loss of exocrine and endocrine function results from parenchymal fibrosis. The primary symptoms of CP are abdominal pain and maldigestion. Because of diagnostic and therapeutic challenges, an interdisciplinary management strategy is required.
Chronic recurrent multifocal osteomyelitis (CRMO) ("multifocal" because it can erupt in different sites, primarily bones; "osteomyelitis" because it is very similar to that disease but appears to be without any infection), is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. Its definition is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Cutting edge research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene responsible for it. Some specialists believe they have discovered a link between CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. Other experts found that "mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder. The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated." The professional theories seem to be moving in the direction of an inherited gene.
Chronic traumatic encephalopathy (CTE) is a progressive and fatal brain disease associated with repeated traumatic brain injuries (TBIs), including concussions and repeated blows to the head. It is also associated with the development of dementia. Studies have shown that people who experience TBI in early to midlife are two to four times more at risk of developing dementia in late life. This risk appears to be much higher in people with several TBIs, although more research is needed to confirm this.
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system involvement, and arthropathy
A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
Churg–Strauss syndrome (CSS) is an autoimmune condition that causes inflammation of small and medium-sized blood vessels (vasculitis) in persons with a history of airway allergic hypersensitivity (atopy). It usually manifests in three stages. The early (prodromal) stage is marked by airway inflammation; almost all patients experience asthma and/or allergic rhinitis. The second stage is characterized by abnormally high numbers of eosinophils (hypereosinophilia), which causes tissue damage, most commonly to the lungs and the digestive tract. The third stage consists of vasculitis, which can eventually lead to cell death and can be life-threatening.
Chylomicron retention disease is characterized by fat malabsorption, hypocholesterolemia, normal fasting triglycerides, and marked intestinal steatosis despite the presence of both plasma and intestinal apoprotein B. The defect remains unknown but presumably involves the synthesis or secretion of chylomicrons.
A rare disorder characterized by the presence of numerous small lung cysts at birthinfant born with lung cysts which severely affects breathing and blood pressure and generally results in infant death
A rare disorder involving obstruction of the drainage of the abdominal lymph glands which results in abdominal accumulation of milky white fluid
Cicatricial pemphigoid (CP) refers to a group of rare chronic autoimmune blistering diseases that predominately affects the mucous membranes, including the conjunctiva, and occasionally the skin.
Ciguatera is a form of human poisoning caused by the consumption of subtropical and tropical marine finfish which have accumulated naturally occurring toxins through their diet. The toxins are known to originate from several dinoflagellate (algae) species that are common to ciguatera endemic regions in the lower latitudes.
A rare disorder where abnormal function of cilia in the breathing passages causes frequent lung problems such as respiratory tract infections.
A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia
A very rare inherited disease characterized by premature degeneration of the hip joints
A rare birth malformation where a patch of skin on the scalp is missing.