Diseases

Partial androgen insensitivity syndrome

Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus. Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens). In PAIS, the body partially responds to these hormones.

The extent of androgen insensitivity in 46 XY individuals is quite variable, even in a single family. Partial androgen insensitivity typically results in "ambiguous genitalia." The clitoris is large or, alternatively, the penis is small and hypospadic (these are two ways of labeling the same anatomical structure). Partial androgen insensitivity may be quite common, and has been suggested as the cause of infertility in many men whose genitals are of typically male appearance.

PAIS is one of three types of androgen insensitivity syndrome, which is divided into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia is that of a normal female, mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia is that of a normal male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia is partially, but not fully masculinized.

Partial atrioventricular canal

A type of congenital heart defect involving and abnormal opening between the heart chambers and defective valves that control blood flow in the heart. The partial form of the condition involves only the two upper heart chambers. Symptoms are determined by the severity of the defect. Often symptoms do not become apparent until later in life.

Partial deletion of Y

A very rare genetic disorder where a portion of chromosome Y is missing resulting in various abnormalities. Symptoms vary from case to case.

Partial lissencephaly

A rare birth defect where the a part of the brain's surface is abnormally smooth. Severity of symptoms is determined by the extent of the defect.

Partington Anderson syndrome

A very rare syndrome characterized mainly by retarded growth before and after birth, developmental delay, small head and distinctive facial appearance.

Partington X-linked mental retardation syndrome

A rare genetic syndrome involving mental retardation, abnormal movements, seizures and ataxia. The syndrome is inherited in a X-linked manner which means that females are carriers but only males display the symptoms.

Pashayan syndrome

A rare inherited condition characterized mainly by eye, nose and facial malformations.

Passos-Bueno syndrome

A very rare syndrome characterized by mental retardation, reduced muscle tone, incontinence, muscle wasting and inability to walk or speak.

Pasteurella multocida infection

An infectious disease caused by a bacterium called Pasteurella multocida. It is often transmitted through bites and scratches from pets and it can be found in mammals and fowl.

Patau syndrome

Patau syndrome or Trisomy 13 is a rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. 

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.

Patel Bixler syndrome

A rare disorder characterized by the association of abnormal thickening of skin on palms and soles, nail abnormalities and alopecia

Patella aplasia- coxa vara- tarsal synostosis

A rare genetic condition characterized by a failure of part or all of the kneecap to develop (patella aplasia), inward curvature of the hip (coxa vara) and fusion of bones in the foot (tarsal synostosis)

Patent ductus arteriosus

Patent ductus arteriosus (PDA) is a persistent opening between two major blood vessels leading from the heart. The opening, called the ductus arteriosus, is a normal part of a baby's circulatory system before birth that usually closes shortly after birth. If it remains open, however, it's called a patent ductus arteriosus. A small patent ductus arteriosus often doesn't cause problems and might never need treatment. However, a large patent ductus arteriosus left untreated can allow poorly oxygenated blood to flow in the wrong direction, weakening the heart muscle and causing heart failure and other complications. Treatment options include monitoring, medications and closure by cardiac catheterization or surgery.

Patterson Stevenson syndrome

A very rare syndrome characterized mainly by a missing fingers giving the hand a split appearance as well as jaw and face abnormalities.

PCDH19 Female Epilepsy

PCDH19 is a condition with a wide spectrum of severity in seizures, cognitive delays and other symptoms, which are all caused by a mutation of the PCDH19 gene on the x chromosome. 

Pearson syndrome

Pearson syndrome is a rare condition characterized by abnormal functioning of the bone marrow, liver, kidneys and pancreas. Infant death is common.

Pectus carinatum

Pectus carinatum describes a protrusion of the chest over the sternum, often described as giving the person a bird-like appearance.

pediatric Crohn’s disease

Crohn's disease is a type of inflammatory bowel disease (IBS), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas and anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery

Children with Crohn’s disease can face growth problems as a result of poor of nutrients during the digestive process. They may tend to be underweight or small-boned. They may also feel tired and unable to stay as active as their peers and friends.

Pediatric multiple sclerosis

Pediatric multiple sclerosis (MS) comprises a small proportion (4%-5%) of the multiple sclerosis population. Multiple sclerosis is typically considered to be a disease of young adults. However, pediatric MS, defined as onset of MS before the age of 18, is increasingly recognized.

Pediatric multiple sclerosis represents a particular MS subgroup with unique diagnostic challenges.

While some aspects of the clinical disease in children resemble those of adults, children can also dramatically differ in clinical, radiological, and laboratory features. The family unit plays a different role in pediatric MS than in adult MS. Management is complicated by the lack of clinical trials in this age group.

The National Multiple Sclerosis Society (NMSS) has recognized that pediatric multiple sclerosis (and other acquired central nervous system demyelinating disorders) have not been studied adequately. The natural history and best practices with respect to evaluation and treatment are unknown.

Pediatric osteosarcoma

Osteosarcoma is the most common type of bone cancer. The average age at diagnosis is 15. Boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. In rare cases, osteosarcoma occurs in adults. Although osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone. A number of variants of osteosarcoma exist, including conventional types (osteoblastic, chondroblastic, and fibroblastic), telangiectatic, multifocal, parosteal, and periosteal.  The cause of osteosarcoma is not known. In some cases, it runs in families, and at least one gene has been linked to increased risk. Treatment varies from person to person and may include surgery, chemotherapy, radiation therapy, and samarium.

Pediatric Rhabdomyosarcoma

Pdediatric rhabdomyosarcoma (Childhood rhabdomyosarcoma, RMS) is the most common soft tissue sarcoma in children.The name is derived from the Greek words rhabdo, which means rod shape, and myo, which means muscle. Although Weber first described rhabdomyosarcoma in 1854, a clear histologic definition was not available until 1946, when Stout recognized the distinct morphology of rhabdomyoblasts. Stout described rhabdomyoblasts as appearing in round, strap, racquet, and spider forms. As its name suggests, the tumor is believed to arise from a primitive muscle cells. Rhabdomyoblasts sometimes have discernible muscle striations that are visible on specimens under light microscopy, although electron microscopy may be needed to detect subcellular elements. Cells are usually positive for intermediate filaments and other proteins typical of differentiated muscle cells, such as desmin, vimentin, myoglobin, actin, and transcription factor myoD.

Peeling skin syndrome- acral type

A rare inherited syndrome characterized mainly by spontaneously peeling skin on the back of the hands and feet. Heat, humidity and friction can make symptoms worse.

PEHO syndrome

A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems