Type I is due to autosomal recessive polycystic kidney disease (ARPKD), which occurs at a frequency of approximately one in 16,000 infants. The kidneys of the fetus/neonate will be enlarged, have many small cysts filled with fluid and will fail to produce an adequate volume of fetal urine. The liver and pancreas of the fetus may also show fibrosis and/or a cystic change.
Type III is due to Autosomal dominant polycystic kidney disease (ADPKD) linked to mutations in the genes PKD1 and PKD2. While ADPKD is considered to be an adult-onset polycytic kidney disease, it can also present in the fetus and neonate in rare cases. Like ARPKD, ADPKD can also present with hepatic cysts and an enlarged spleen. An increased prevalence of vascular disease is also observed in these cases of ADPKD.
Powell-Buist-Stenzel syndrome: A rare syndrome inherited in a X-linked manner and characterized by diarrhea , endocrine disease and severe infections during infancy which lead to death. The condition is possibly due to an overactive immune system.
Powell-Chandra-Saal syndrome: A very rare syndrome characterized mainly by webbed joints and heart, vertebral, ear and radial defects.
Powell-Venencie-Gordon syndrome: A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
Poxviruses (members of the family Poxviridae) are viruses that can, as a family, infect both vertebrate and invertebrate animals. Four genera of poxviruses may infect humans: orthopox, parapox, yatapox, molluscipox. Orthopox: variola virus, vaccinia virus, cowpox virus, monkeypox virus, smallpox (eradicated); Parapox: orf virus, pseudocowpox, bovine papular stomatitis virus; Yatapox: tanapox virus, yaba monkey tumor virus; Molluscipox: molluscum contagiosum virus (MCV). The most common are vaccinia (seen on Indian subcontinent) and molluscum contagiousum, but monkeypox infections are rising (seen in west and central African rainforest countries).
Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms.
Prata liberal goncalves syndrome: Another name for Brachydactyly - scoliosis - carpal fusion (or close medical condition association). Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
Preaxial deficiency, postaxial polydactyly and hypospadias: A very rare syndrome characterized mainly by an extra little finger, abnormally placed urethral opening and underdeveloped thumbs.
Preaxial polydactyly colobomata mental retardation: Another name for Pfeiffer-Mayer syndrome (or close medical condition association). Pfeiffer-Mayer syndrome: A very rare syndrome characterized mainly by mental retardation, colobomata and an extra thumb.
Precocious myoclonic encephalopathy: An early-onset form of myoclonic seizures. It is caused by brain abnormalities due to such things as brain malformations and inborn errors of metabolism.
Precocious puberty (Latin: pubertas praecox) is an unusually early onset of puberty, the process of sexual maturation triggered by the brain or exogenous chemicals, which usually begins in late childhood and results in reproductive maturity and completion of growth. Early puberty may be a variation of normal development, or may be a result of a disease or abnormal hormone exposure. In some contexts, the term is used more broadly to describe the early appearance of any of the physical features of puberty even if the complete brain-directed process is not occurring.
Gonadotropin-dependent precocious puberty: A rare disorder affecting females where premature puberty occurs due to premature release of gonadotropin hormones.
Pre-eclampsia (US: preeclampsia, priːɛ'klæmpsia, from Greek eklampsia, to shine forth, term used by Hippocrates to suggest a sudden development) is a medical condition where hypertension arises in pregnancy (pregnancy-induced hypertension) in association with significant amounts of protein in the urine. Because pre-eclampsia refers to a set of symptoms rather than any causative factor, it is established that there are many different causes for the syndrome. It also appears likely that there is a substance or substances from the placenta that may cause endothelial dysfunction in the maternal blood vessels of susceptible women. While blood pressure elevation is the most visible sign of the disease, it involves generalized damage to the maternal endothelium and kidneys and liver, with the release of vasopressive factors only secondary to the original damage. Pre-eclampsia may develop from 20 weeks gestation (it is considered early onset before 32 weeks, which is associated with increased morbidity) and its progress differs among patients; most cases are diagnosed pre-term. Apart from abortion, Caesarean section, or induction of labor, and therefore delivery of the placenta, there is no known cure. It may also occur up to six weeks post-partum. It is the most common of the dangerous pregnancy complications; it may affect both the mother and the fetus.
Premature ovarian failure is a rare disorder where the ovaries fail to function prematurely. Ovarian failure can occur in the 20's or 30's. Normal ovarian failure occurs during menopause. Premature ovarian failure can be caused by a genetic mutation and can occur sporadically or in a familial pattern.
Alternative Names: Hearing loss - age related; Presbycusis Age-related hearing loss, or presbycusis, is the slow loss of hearing that occurs as people get older.
Primary agammaglobulinemia: A genetic disorder characterized by a deficiency of antibodies due to abnormal development of B lymphocytes.
Primary amoebic meningoencephalitis (PAM, or PAME) is a disease of the central nervous system caused by infection from an amoeba such as Naegleria fowleri or Balamuthia mandrillaris.
Primary angiitis of the central nervous system: Inflammation of blood vessels that affect the central nervous system (brain and spinal cord). There are three main types within this category: benign angiitis of the central nervous system (BACNS), granulomatous angiitis of the central nervous system (GACNS) and atypical primary angiitis of the central nervous system (atypical ACNS). Symptoms vary depending on which particular type is involved and which part of the central nervous system is involved.
Primary biliary cholangitis (PBC) is a chronic disease that affects the bile ducts within the liver. The bile ducts carry a fluid called bile from the liver to the gallbladder, where it is stored. The bile ducts become inflamed and damaged, which causes bile to build up in the liver. This abnormal buildup destroys liver tissue and in later stages results in cirrhosis.
Primary biliary cirrhosis usually occurs between the ages of 40 and 60 and affects women more often than men. The cause of this condition is unknown, but research suggests that it is an autoimmune disease.
Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.
Primary Central Nervous System Lymphoma (PCNSL) is a rare, aggressive type of lymphoma that originates in the brain and/or spinal cord, and does not spread to other parts of the body. It’s a subtype of non-Hodgkin lymphoma, often diagnosed in older adults, and is more common in men than women. While PCNSL can occur in anyone, it’s more likely to develop in people with weakened immune systems, such as those with HIV/AIDS or those taking immunosuppressant drugs.
Primary ciliary dyskinesia (PCD, immotile ciliary syndrome, Kartagener syndrome), is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube, as well as in the flagella ofsperm cells.
Respiratory epithelial motile cilia, which resemble microscopic "hairs" (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. Normally, cilia beat 7 to 22 times per second, and any impairment can result in poormucociliary clearance, with subsequent upper and lower respiratory infection. Cilia also are involved in other biological processes (such as nitric oxide production), which are currently the subject of dozens of research efforts. As the functions of cilia become better understood, the understanding of PCD should be expected to advance.
Primary ciliary dyskinesia, 2: A very rare disorder where the cilia fail to move. Type 2 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (19q13.3qter). 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.