Disease – Page 160 – CheckOrphan

Persistent Hyperplastic Primary Vitreous

Persistent parvovirus infection

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

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

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.

Peters anomaly

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

Peters anomaly with cataract: A rare genetic eye disorder where abnormal development of the eye structures leads to corneal opacities and cataracts.

Peters congenital glaucoma

Petit Fryns syndrome

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

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

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.

Peyronie disease

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

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

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

Pfeiffer-Palm-Teller syndrome: A rare disorder characterized by facial peculiarities, defective tooth enamel and progressive joint stiffness.

Pfeiffer Rockelein syndrome

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

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

Pfeiffer-Tietze-Welte syndrome: A very rare disorder characterized by mental retardation, split hand and premature fusion of the sagittal skull bones

Ph+ ALL

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.

PHACE association

PHACE association: A very rare syndrome characterized mainly by a brain malformation (involving the posterior fossa), large facial hemangioma and eye, heart and artery anomalies.

Phacomatosis fourth

Phacomatosis, fourth (medical condition): A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.

Phacomatosis pigmentokeratotica

Phacomatosis pigmentokeratotica: A very rare syndrome characterized mainly by abnormally pigmented areas on the skin which is associated with neurological problems. The skin pigmentation spreads and generally occurs only on one side of the body.

Phacomatosis pigmentovascularis

Phacomatosis pigmentovascularis (medical condition): A very rare syndrome characterized mainly by abnormal skin pigmentation which is often associated with neurological problems.

Phelan McDermid syndrome

The Phelan-McDermid Syndrome (PMS) , is a genetic condition which meant a piece on chromosome 22, long arm (q), region 1, band three, sub-band three did not exist or had been compromised. The original name for PMS was 22q13 deletion syndrome. Today there are about four hundred individuals in the world with this chromosome deletion. The condition is named for Dr. Katy Phelan and Dr. Heather McDermid who first identified the condition. Dr. Katy Phelan brought the original first fifteen families together into what is now the Phelan-McDermid Syndrome Foundation.

Phenobarbital antenatal infection

Phenobarbital antenatal infection: Fetal exposure to a drug called Phenobarbital which can be used as an anticonvulsant, sedative or hypnotic drug. The range of symptoms depends on the dosage and duration of the drug taking during pregnancy.

Phenobarbital embryopathy

Phenobarbital embryopathy (medical condition): Fetal exposure to a drug called Phenobarbital which can be used as an anticonvulsant, sedative or hypnotic drug. The range of symptoms depends on the dosage and duration of the drug taking during pregnancy.

Phenol sulfotransferase deficiency

Phenol sulfotransferase deficiency: A rare inherited disorder where the body is deficient in an enzyme (phenol sulfotransferase) which makes them unable to process phenols and other toxic substance in the body. A buildup of phenol in the body can cause physical and behavioral problems.

Phenothiazine antenatal infection

Phenothiazine antenatal infection: Maternal use of a drug called phenothiazine has not been proven to cause problems in offspring. Animal studies show there is a risk but no definitive studies have been done on humans. Phenothiazine is used to treat mental and emotional disorders such as schizophrenia. The biggest risks are likely to occur during the first trimester (malformations) and towards the end of the pregnancy (poor muscle tone, poor reflexes and jaundice).

Phenylalaninemia

Phenylalaninemia (medical condition): A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.

Phenylketonuria

Phenylketonuria (also known as Phenylalanine hydroxylase deficiency, and PKU) is an inborn error of metabolism involving impaired metabolism of the amino acid phenylalanine. Phenylketonuria is caused by absent or virtually absent phenylalanine hydroxylase (PAH) enzyme activity. The condition is also known as phenylalanine hydroxylase deficiency.

Protein-rich foods or the sweetener aspartame can act as poisons for people with phenylketonuria. The role of PAH is to break down excess phenylalanine from food. Phenylalanine is a necessary part of the human diet and is naturally present in all kinds of dietary protein. It is also used to make aspartame, known by the trade name Nutrasweet, which is used to sweeten low-calorie and sugar free soft drinks, yogurts, and desserts. In people without PKU, the PAH enzyme breaks down any excess phenylalanine from these sources beyond what is needed by the body. However, if there is not enough of the PAH enzyme or its cofactor, then phenylalanine can build up in the blood and brain to toxic levels, affecting brain development and function. PKU is rare, but important to identify, because if caught early it is very treatable. It is not contagious, and it is lifelong, but with early diagnosis and consistent treatment, the damaging effects can be minimal or non-existent.

Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems. The best proven treatment for classical PKU patients is a strict phenylalanine-restricted diet supplemented by a medical formula containing amino acids and other nutrients. In the United States, the current recommendation is that the PKU diet should be maintained for life. Patients who are diagnosed early and maintain a strict diet can have a normal life span with normal mental development.

PKU is an inherited disease. When an infant is diagnosed with PKU, it is never the result of any action of the parents or any environmental factor. Rather, for a child to inherit PKU, both of his or her parents must have at least one mutated allele of the PAH gene. Most parents who are carriers of PKU genes are not aware that they have this mutation because being a carrier causes no medical problems. To be affected by PKU, a child must inherit two mutated alleles, one from each parent.

Phenylketonuria type 2

Phenylketonuria type 2: A genetic condition where phenylalanine (component of protein) is unable to be broken down due to an enzyme (phenylalanine hydroxylase) deficiency which leads to a harmful build up of the compound. The condition is characterized by neurological symptoms as well as the presence of increased levels of phenylalanine in the blood.