Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.
It was characterized in 1958.
A locus at Xq25-26 has been described.
Pentosuria is a condition where xylulose (a pentose) presents in the urine in unusually high concentrations.An inborn metabolic disorder where an enzyme (xylitol dehydrogenase reductase) deficiency results in excessive urinary excretion of a sugar called L-xylulose. Pentoses can be found in fruits. The condition is harmless.
Penttinen-Aula syndrome (medical condition): A rare form of premature aging.
PEPCK 1 deficiency: A rare inherited disorder where deficiency of an enzyme (phosphoenolpyruvate carboxykinase-1) prevents fats and proteins being turned into glucose which causes various problems. In type 1, the enzyme deficiency occurs in the liquid part of the cells.
Peptidic growth factors deficiency: A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures.
Perimyositis: Inflammation of tissue surrounding muscles
Periodic fever, aphthous stomatitis, pharyngitis and adenitis or periodic fever aphthous pharyngitis and cervical adenopathy (PFAPA) syndrome is a medical condition, typically starting in young children, in which high fever occurs periodically at intervals of about 3–5 weeks, frequently accompanied by aphthous-like ulcers, pharyngitis and/or cervical adenitis (cervical lymphadenopathy). The syndrome was described in 1987 and named two years later.
Peripheral T-cell lymphoma (PTCL) is a rare, aggressive type of non-Hodgkin lymphoma that develops from mature T-cells or natural killer (NK) cells, typically outside of the bone marrow, and is characterized by a diverse range of subtypes.
PTCLs are relatively rare, accounting for about 5-10% of all non-Hodgkin lymphomas, and are often considered aggressive, meaning they tend to grow and spread quickly.
PTCLs develop from mature T-cells and NK cells that are found in lymphoid tissues outside of the bone marrow, such as lymph nodes, spleen, gastrointestinal tract, and skin.
There are numerous subtypes of PTCL, including PTCL-not otherwise specified (PTCL-NOS), angioimmunoblastic T-cell lymphoma (AITL), and anaplastic large cell lymphoma (ALCL)
Perivascular epithelioid cell tumour, also known as PEComa or PEC tumour, is a family of mesenchymal tumours consisting of perivascular epithelioid cells (PECs).These are rare tumours that can occur in any part of the human body.
The cell type from which these tumours originate remains unknown. Normally, no perivascular epitheloid cells exist; the name refers to the characteristics of the tumour when examined under the microscope.
Establishing the malignant potential of these tumours remains challenging although criteria have been suggested; some PEComas display malignant features whereas others can cautiously be labeled as having ‘uncertain malignant potential’. The most common tumours in the PEComa family are renal angiomyolipoma and pulmonary lymphangioleiomyomatosis, both of which are more common in patients with tuberous sclerosis complex. The genes responsible for this multi-system genetic disease have also been implicated in other PEComas.
Many PEComa types shows a female predominance in the sex ratio.
Persistent parvovirus infection: Symptoms resulting from a persistent parvovirus infection in immunocompromised patients or those who have undergone organ transplant and take anti-rejection drugs. Their immune systems are unable to respond to the virus. The B19 parvovirus mainly attacks immature red blood cells so a persisting infection may lead to severe, chronic anemia.
Persistent pulmonary hypertension of the newborn (PPHN) is defined as the failure of the normal circulatory transition that occurs after birth. The ductus arteriosus remains open, and the baby's blood flow continues to bypass the lungs. Even though the baby is breathing, oxygen in the breathed air will not reach the bloodstream. Because the blood returning from the body is unable to enter the lungs properly - and instead flows through the still-open ductus arteriosus - it returns to the heart in an oxygen-poor state.
Sources: Medscape & Children's Hospital Colorado
Persistent truncus arteriosus occurs when, during fetal development, the primitive truncus does not divide into the pulmonary artery and aorta, resulting in a single large arterial trunk that overlies a large, perimembranous, infundibular ventricular septal defect. Consequently, a mixture of oxygenated and deoxygenated blood enters systemic, pulmonary, and coronary circulations. Symptoms include cyanosis, poor feeding, diaphoresis, and tachypnea. A normal S1 and a loud single S2 are common; murmurs may vary. Diagnosis is by echocardiography or cardiac catheterization. Medical treatment for heart failure is typically followed by surgical repair. Endocarditis prophylaxis is recommended. Persistent truncus arteriosus accounts for 1 to 2% of congenital heart anomalies. About 35% of patients have DiGeorge syndrome or velocardiofacial syndrome. There are 4 types. In type I, the main pulmonary artery arises from the truncus, then divides into the right and left pulmonary arteries. In types II and III, the right and left pulmonary arteries arise separately from the posterior and lateral aspects of the truncus, respectively. In type IV, arteries arising in the descending aorta supply the lungs; this type is now considered a severe form of tetralogy of Fallot. Other anomalies (eg, truncal valve insufficiency, coronary artery anomalies, atrioventricular septal defect, double aortic arch) may be present and may contribute to the high surgical mortality rate. Physiologic consequences of type I include mild cyanosis, heart failure (HF), and significant pulmonary overcirculation. In types II and III, cyanosis is more noticeable and HF is infrequent because pulmonary blood flow is normal or only slightly increased.
The sclera is the tough 'white' of the eye. The sclera gives the eye its overall shape and strength. A child can be born with most of the normally clear cornea hazy and white, like the sclera. This is called Sclerocornea. If only the central part of the cornea is hazy then this is often called Peter's Anomaly.
Peters anomaly with cataract: A rare genetic eye disorder where abnormal development of the eye structures leads to corneal opacities and cataracts.
The sclera is the tough 'white' of the eye. The sclera gives the eye its overall shape and strength. A child can be born with most of the normally clear cornea hazy and white, like the sclera. This is called Sclerocornea. If only the central part of the cornea is hazy then this is often called Peter's Anomaly.
Petit-Fryns syndrome: A very rare syndrome characterized mainly by mental retardation, short stature and degeneration or loss of calcium in bones of the hands and feet.
Petty-Laxova-Wiedemann syndrome: A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies.
Peutz-Jeghers syndrome (PJS) is a disorder often passed down through families (inherited) in which the person develops intestinal polyps and is at a significantly higher risk for developing certain cancers.
Curvature of the penis is an abnormal bend in the penis that occurs during erection. It is also called Peyronie's disease.
Peyronie's disease is a condition of uncertain cause that is characterized by a plaque, or hard lump, that forms on the penis. The plaque develops on the upper or lower side of the penis in layers containing erectile tissue. It begins as a localized inflammation and can develop into a hardened scar.
Pfeiffer Kapferer syndrome: Another name for Deafness - hypospadias - metacarpal and metatarsal synostosis (or close medical condition association). Pfeiffer Kapferer syndrome (medical condition): A very rare syndrome characterized mainly by deafness, penis abnormalities and bone anomalies in the foot and hands. Deafness - hypospadias - metacarpal and metatarsal synostosis: A very rare syndrome characterized mainly by deafness, penis abnormalities and bone anomalies in the foot and hands.
Pfeiffer-Mayer syndrome: A very rare syndrome characterized mainly by mental retardation, colobomata and an extra thumb. More detailed information about the symptoms, causes, and treatments of Pfeiffer-Mayer syndrome is available below. TopSymptoms of Pfeiffer-Maye
Pfeiffer-Palm-Teller syndrome: A rare disorder characterized by facial peculiarities, defective tooth enamel and progressive joint stiffness.
Pfeiffer Rockelein syndrome (medical condition): A very rare syndrome characterized mainly by webbed toes, blocked small intestine and premature fusion of certain skull bones (coronal).
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Pfeiffer syndrome is divided into 3 subtypes (type 1, type 2 and type 3) based on the presence and severity of specific features.
Pfeiffer syndrome affects about 1 in 100,000 individuals. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Pfeiffer-Tietze-Welte syndrome: A very rare disorder characterized by mental retardation, split hand and premature fusion of the sagittal skull bones
About 25 percent of adults with ALL have a subtype called “Ph-positive ALL” (also known as “Ph+ ALL” or “Philadelphia chromosome-positive ALL”). The leukemia cells of these patients have the Philadelphia chromosome, which is formed by a translocation between parts of chromosomes 9 and 22. A piece of chromosome 9 breaks off and attaches to chromosome 22, and a piece of chromosome 22 similarly breaks off and attaches to chromosome 9. The abnormal chromosome 22 is known as the Philadelphia chromosome. This chromosomal alteration creates a fusion gene called BCR-ABL1. This gene produces a protein called a tyrosine kinase that causes the leukemia cells to grow and divide out of control.