Polysyndactyly type Haas: A malformation where all the fingers are webbed and there is an extra digit. The webbing did not involve any bone fusion. The feet may have variable degrees of webbing and an extra toe may be present.
Pompe disease, also known as Glycogen storage disease type 2 is an inherited metabolic disorder caused by an inborn lack of the enzyme acid alpha-glucosidase (also known as acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression.
Poncet-Spiegler's cylindroma: The development of a number of benign tumors on the scalp.
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain.
Researchers have described six forms of pontocerebellar hypoplasia. These forms have somewhat different signs and symptoms and different genetic causes. All forms of this condition are characterized by abnormal brain development, problems with movement, delayed development, and intellectual disability. The signs and symptoms are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.
Pontoneocerebellar Hypoplasia:
Popliteal pterygium syndrome: A rare genetic disorder characterized by cleft palate, pits in lower lip and popliteal webs.
Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium (a web behind the knee). [1]
Porencephaly: A central nervous system disorder involving cysts in the brain cortex caused by stroke, infection or genetic anomaly.
Porencephaly - cerebellar hypoplasia - malformations: A very rare syndrome characterized mainly by abnormal brain development and internal malformations.
Porokeratosis of Mibelli: A rare skin disorder characterized by skin lesions that tend to spread and may be located on the limbs, face, genitals and mouth. The condition progresses and regresses spontaneously and mild scarring may result. There is an associated increased risk of skin cancer.
Porokeratosis plantaris, palmaris, et disseminata: A very rare disorder involving progressive skin thickening that starts with the palms and soles.
Porokeratosis punctata palmaris et plantaris: A rare skin disorder where the skin on the palms and soles develop spiny hard lumps.
Porokeratosis, disseminated superficial actinic 1: A type of inherited skin spot that develops on exposure to sun. The spots start as reddish-brown skin bumps which gradually enlarge and become lighter in the middle with a dark rim. The scaly lesions tend to affect mainly the lower arms and legs.
Porokeratosis, disseminated superficial actinic 2: A type of inherited skin spot that develops on exposure to sun. The spots start as reddish-brown skin bumps which gradually enlarge and become lighter in the middle with a dark rim. The scaly lesions tend to affect mainly the lower arms and legs.
Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood. Hepatoerythropoietic porphyria has been described as a homozygous form of porphyria cutanea tarda, although it can also be caused if two different mutations occur at the same locus.
Porphyria, Ala-D: A very rare inherited disorder where involving a lack of the enzyme delta-aminolevulinic acid dehydratase.
In medicine, portal hypertension is hypertension (high blood pressure) in the portal vein and its tributaries. It is often defined as a portal pressure gradient (the difference in pressure between the portal vein and the hepatic veins) of 5 mm Hg or greater.
Portal hypertension may be due to a suprahepatic or infrahepatic block. Suprahepatic blocks result in Budd-Chiari syndrome. Their principal cause is myeloproliferative syndromes and invasion of the hepatic veins by a tumour. Their main manifestations are ascites and liver enlargement. Treatment consists of re-establishing the hepatofugal drainage. Infrahepatic blocks are due to obstruction of the portal vein, either by thrombosis facilitated by thrombogenic diseases, or by a tumour. Their main consequences are gastrointestinal hemorrhages. Treatment consists of preventing the rupture of oesophageal varices.
Portal thrombosis: Clotting or obstruction of blood flow along the veins from the intestines and spleen and into the liver. This causes blood to back up and results various problems such as enlarged spleen and abdominal pain . The obstruction can occur acutely (over a short space of time) or chronically (over a longer period of time).
Portal vein thrombosis is a form of venous thrombosis affecting the hepatic portal vein, which can lead to portal hypertension and reduction in the blood supply to the liver.
Portuguese type amyloidosis: An inherited form of systemic amyloidosis which involves deposits of a substance called amyloid throughout various parts of the body.
Positive rheumatoid factor polyarthritis: A form of rheumatoid arthritis which involves the presence of rheumatoid factor in the blood. More than one joint is involved.
Post-polio syndrome (PPS, or post-poliomyelitis syndrome) is a condition that affects approximately 50% of people who have previously contracted poliomyelitis—a viral infection of the nervous system—after recovery from the initial paralytic attack. Typically the symptoms appear 15-30 years after the original infection, at an age of 35 to 60. Symptoms include acute or increased muscular weakness, pain in the muscles, and fatigue. The precise mechanism that causes PPS is unknown. It shares many features with the post-viral chronic fatigue syndrome, but unlike that disorder it tends to be progressive, and as such can cause a tangible loss of muscle strength. Treatment is primarily limited to adequate rest, conservation of available energy, and supportive measures, such as leg braces and energy-saving devices such as powered wheelchairs, analgesia (pain relief) and sleep aids.
Post-infectious myocarditis: Heart muscle inflammation that occurs after an infection such as measles, influenza virus, enteroviruses and adenoviruses.
Post-infectious reactive arthropathy: Joint disease that occurs up to a month following an infection in some other part of the body.
Post-orgasmic illness syndrome (POIS) is a condition characterized by debilitating symptoms following orgasm that last for a few hours up to several days. It appears to be principally a male orgasmic disorder and is believed to affect between 0.25-1% of the population.
Post-Streptococcal Neurologic Disorders: A rare autoimmune disorder where the body develops an abnormal autoimmune response to streptococcal infection and causes neurological symptoms.
Post-transplant lymphoproliferative disorder (PTLD) is the name given to a group of B cell lymphomas occurring in immunosuppressed patients following organ transplant. It is an uncommon condition occurring in 0.2% of patients within one year of transplant, with an annual incidence of 0.04% thereafter. The risk of developing the disease is higher in children and recipients of heart transplants.
Post-traumatic epilepsy (PTE) is a form of epilepsy that results from brain damage caused by physical trauma to the brain (traumatic brain injury, abbreviated TBI). A person with PTE suffers repeated post-traumatic seizures (PTS, seizures that result from TBI) more than a week after the initial injury. PTE is estimated to constitute 5% of all cases of epilepsy and over 20% of cases of symptomatic epilepsy (in which seizures are caused by an identifiable organic brain condition). It is not known how to predict who will develop epilepsy after TBI and who will not. However, the likelihood that a person will develop PTE is influenced by the severity and type of injury; for example penetrating injuries and those that involve bleeding within the brain confer a higher risk. The onset of PTE can occur within a short time of the physical trauma that causes it, or months or years after. People with head trauma may remain at a higher risk for seizures than the general population even decades after the injury. PTE may be caused by several biochemical processes that occur in the brain after trauma, including overexcitation of brain cells and damage to brain tissues by free radicals. Diagnostic measures include electroencephalography and brain imaging techniques such as magnetic resonance imaging, but these are not totally reliable. Antiepileptic drugs do not prevent the development of PTE after head injury, but may be used to treat the condition if it does occur. When medication does not work to control the seizures, surgery may be needed. Modern surgical techniques for PTE have their roots in the 19th century, but trepanation (cutting a hole in the skull) may have been used for the condition in ancient cultures.