Parkinson’s disease (PD) is a progressive disorder of the central nervous system resulting in a lack of dopamine in the brain, among other changes. Dopamine, a chemical produced by cells in the brain, is necessary for smooth, controlled movement of muscles.
source: Parkinson's Institute
An early onset form of Parkinson's disease as well as mental retardation
Paroxysmal cold hemoglobinuria (PCH) is a rare blood disorder in which the body's immune system produced antibodies that destroy red blood cells when they go from cold to warm temperatures.
A rare inherited neurological disorder involving short, recurring attacks of involuntary movement. The attacks usually only last for 5 to 10 seconds.
Paroxysmal nocturnal hemoglobinuria (or paroxysmal nocturnal haemoglobinuria (PNH), previously Marchiafava–Micheli syndrome), is a rare, acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's intrinsic immune system. This destructive process is a result of a defect in the formation of surface proteins on the red blood cell, which normally function to inhibit such immune reactions. Since the complement cascade attacks the red blood cells throughout the circulatory system, the hemolysis is considered an intravascular hemolytic anemia. Other key features of the disease, notably the high incidence of thrombosis, are not totally understood.
A rare inherited condition characterized by episodes of chorea (involuntary movements) which may be triggered by such things as hunger, tiredness, stress, coffee, alcohol and tobacco. Episodes may last for minutes or hours.
A rare condition where the heart has an abnormal rhythm for no detectable reason. The condition can lead to fainting attacks and even sudden death in an otherwise healthy individual.
Uveitis is swelling and irritation of the uvea, the middle layer of the eye. The uvea provides most of the blood supply to the retina.
Inflammation of the nerves that carry signals from the spine to the shoulder, arm and hands.
A rare birth defect where part of the corpus callosum is absent. The corpus callosum is the area that connects the two main halves of the brain (cerebral hemispheres). Severity of symptoms is determined by how much of the structure is missing. Mild cases tend to involve headaches, seizures and speech problems which don't appear for years.
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.
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.
A very rare genetic disorder where a portion of chromosome Y is missing resulting in various abnormalities. Symptoms vary from case to case.
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.
A very rare syndrome characterized mainly by retarded growth before and after birth, developmental delay, small head and distinctive facial appearance.
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.
Fetal infection with human parvovirus B19 - serious abnormalities rarely occur.
A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
A rare inherited condition characterized mainly by eye, nose and facial malformations.
A very rare syndrome characterized by mental retardation, reduced muscle tone, incontinence, muscle wasting and inability to walk or speak.
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 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.
A rare disorder characterized by the association of abnormal thickening of skin on palms and soles, nail abnormalities and alopecia
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)
A very rare genetic disorder characterized by the association of knee problems and mental retardation
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.
A very rare disorder involving destruction of retinal pigments in a butterfly shape
A very rare disorder characterized by excessive pigmentation, looks skin, unusual face, several mental retardation and bone abnormalities.
A very rare syndrome characterized mainly by a missing fingers giving the hand a split appearance as well as jaw and face abnormalities.
A rare condition characterized by chronic arthritis that occurs in several joints.