Paine syndrome is a rare genetic condition that is present at birth. Characterized by an undersized head and related abnormalities in the brain, the disease results in severe mental and physical retardation, movement disorders, and vision problems. Most infants with Paine syndrome do not survive their first year of life.
A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.
A rare disorder involving periodic inflammation in and around joints. Eventually, rheumatoid arthritis may develop if the condition persists.
A rare disorder characterized by pyramidal signs and parkinsonism caused by a degeneration of the pyramidal tract and the part of the brain called the pallidum.
Pallister–Killian syndrome ( tetrasomy 12p mosaicism, Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p. Because not all cells have the extra isochromosome, Pallister-Killian is a mosaic condition.
It was first described by Philip Pallister in 1977 and further researched by Maria Teschler-Nicola and Wolfgang Killian in 1981
A rare genetic disorder involving distinctive facial features, mental retardation, speech problems and limb deformities
Pallister-Hall syndrome is an extremely rare developmental disorder marked by a spectrum of features ranging from mild (extra fingers or toes or a non-cancerous malformation in the hypothalamus region of the brain) to severe (laryngotracheal cleft, an opening between the windpipe and voicebox that can be fatal in newborns).
A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
A rare group of disorders where the skin of the palms and soles is thicker than normal. The thickening may occur in small localized areas of the palms and soles or it may occur over the whole surface
A very rare disorder where the back portion of the pancreas fails to develop.
A pancreatic tumor which may be benign or malignant. Symptoms may vary depending on the location and size of the tumor as well as whether the tumor secretes hormones or not. For example, the tumor may block the biliary duct.
A very rare syndrome characterized mainly by abnormal development of the pancreas resulting in infant diabetes mellitus. The insulin-producing beta cells are absent from birth.
Pancreatic cancer arises when cells in the pancreas, a glandular organ behind the stomach, begin to multiply out of control and form a tumor. These cancer cells have the ability to invade other parts of the body. There are a number of types of pancreatic cancer. The most common, pancreatic adenocarcinoma, accounts for about 85% of cases, and the term "pancreatic cancer" is sometimes used to refer only to that type. These adenocarcinomas start within the part of the pancreas which make digestive enzymes. Several other types of cancer, which collectively represent the majority of the non-adenocarcinomas, can also arise from these cells. One to two in every hundred cases of pancreatic cancer are neuroendocrine tumors, which arise from the hormone-producing cells of the pancreas. These are generally less aggressive than pancreatic adenocarcinoma.
Pancreatic cancer usually doesn't cause symptoms right away, but can cause yellowing of the skin and eyes, pain in the abdomen and back, weight loss, and fatigue. Some risk factors for developing pancreatic cancer include smoking, long-term diabetes, chronic pancreatitis, and certain hereditary disorders. Because pancreatic cancer is often found late and it spreads quickly, it can be hard to treat. Possible treatments include surgery, radiation, and chemotherapy.
Pancreatic neuroendocrine tumors form in hormone-making cells (islet cells) of the pancreas.
A very rare pancreatic tumor that occurs almost exclusively in children. The tumor can grow large enough to push against and hence obstruct the passage of material in the gastrointestinal tract.
PANDAS (Pediatric autoimmune neuropsychiatric disorders associated with Streptococcal infections) describes a hypothesis that there exists a subset of children with rapid onset of obsessive-compulsive disorder (OCD) or tic disorders and these symptoms are caused by group A beta-hemolytic streptococcal (GABHS) infections. The proposed link between infection and these disorders is that an initial autoimmune reaction to a GABHS infection produces antibodies that interfere with basal ganglia function, causing symptom exacerbations. It has been proposed that this autoimmune response can result in a broad range of neuropsychiatric symptoms.
The PANDAS hypothesis was based on observations in clinical case studies at the US National Institutes of Health and in subsequent clinical trials where children appeared to have dramatic and sudden OCD exacerbations and tic disorders following infections. There is supportive evidence for the link between streptococcus infection and onset in some cases of OCD and tics, but proof of causality has remained elusive. The PANDAS hypothesis is controversial; whether it is a distinct entity differing from other cases of Tourette syndrome (TS)/OCD is debated.
PANDAS has not been validated as a disease entity; it is not listed as a diagnosis by the International Statistical Classification of Diseases and Related Health Problems (ICD) or the Diagnostic and Statistical Manual of Mental Disorders (DSM). Pediatric acute-onset neuropsychiatric syndrome (PANS) is a 2012 proposal describing another subset of acute-onset OCD cases including "not only disorders potentially associated with a preceding infection, but also acute-onset neuropsychiatric disorders without an apparent environmental precipitant or immune dysfunction".
Hypopituitarism is a rare disorder that results from decreased production of the hormones of the pituitary gland. There are six hormones that are produced by the anterior lobe of the pituitary gland. These include growth hormone, thyroid stimulating hormone, follicle stimulating hormone, leutenizing hormone, prolactin and ACTH. In addition, the posterior lobe of the pituitary releases antidiuretic hormone and oxytocin. The antidiuretic hormone is responsible for maintaining normal water balance in the kidney. Widespread effects are seen when these hormones are not present in their normal quantities.
A rare disorder characterized by an unusual facial appearance, fragile bones, high blood phosphatase levels that low blood phosphate levels.
Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1) and formerly called Hallervorden–Spatz syndrome (use of this eponym is somewhat discouraged due to Hallervorden and Spatz's affiliation with the Nazi regime and the ethically questionable manner in which they acted ), is a degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain.
Inflammation of the whole uvea. The uvea is the middle coat of the eye.
Papillary cystadenocarcinoma is an extremely rare malignant neoplasm characterized by cysts and papillary endophytic projections. It was first defined in 1991 by WHO. We presented a case of papillary cystadenocarinoma arising from the submandibular gland in a 78-year-old male patient, and discussed the clinical, histopathological and treatment features of this rare entity in the light of the current literature. Papillary cystadenocarcinoma is an extremely rare malignant neoplasm that was first defined in 1991 by WHO. It has also been called malignant papillary cystadenoma, low-grade papillary adenocarcinoma, or mucus-producing adenopapillary carcinoma. In this article, we report an unusual case of papillary cystadenocarcinoma arising from the submandibular gland.
Papillary renal cell carcinoma: A type of kidney cancer that accounts for 15 to 20% of renal carcinomas. It occurs in both sporadic and familial forms. Hereditary papillary renal carcinoma is characterized by the development of multiple papillary tumors in both kidneys. The pattern of inheritance is consistent with autosomal dominant transmission with reduced penetrance. The disorder is distinct from other forms of inherited kidney cancer.
Papillary thyroid carcinoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of certain cells (follicular cells) of the thyroid. Many people with papillary thyroid carcinoma have no signs or symptoms of the condition. When present, symptoms may include a small lump at the base of the neck, hoarseness, difficulty swallowing, trouble breathing, and pain in the neck or throat. The cause of papillary thyroid carcinoma is currently unknown. Risks for developing thyroid cancer include a history of high-dose external radiation treatments to the neck and radiation exposure during nuclear plant disasters. It is often well-differentiated, slow-growing, and localized, although it can metastasize.
Papillary thyroid cancer or papillary thyroid carcinoma is the most common type of thyroid cancer, representing 75 percent to 85 percent of all thyroid cancer cases. It occurs more frequently in women and presents in the 20–55 year age group. It is also the predominant cancer type in children with thyroid cancer, and in patients with thyroid cancer who have had previous radiation to the head and neck.
Swelling of the head of the optic nerve (optic disk) due to increased intracranial pressure.
A progressive eye disorder characterized by inflammation and degeneration of part of the optic nerve (optic disk) which can result in blindness and can affect only one, or both eyes. The degree of vision loss is variable
This is a rare, benign tumor most common in children younger than 12. Choroid plexus papillomas grow slowly until they eventually block the flow of cerebrospinal fluid causing hydrocephalus and increased pressure inside the skull.