Satoyoshi syndrome, also known as Komura-Guerri syndrome, is a rare progressive disorder of presumed autoimmune cause, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal abnormalities. The syndrome was first reported in 1967 by Eijiro Satoyoshi and Kaneo Yamada in Tokyo, Japan. To this date, fewer than 50 cases worldwide have been reported for the Satoyoshi syndrome.

People with the syndrome typically develop symptoms of the illness at a young age, usually between the age of six and fifteen years old. The initial symptoms are muscle spasms in the legs and alopecia, also known as baldness. The spasms are painful and progressive and their frequency varies from 1 or 2 to 100 per day, each lasting a few minutes. It can be sufficiently severe to produce abnormal posturing of the affected limbs, particularly the thumbs. With progression the illness involves the pectoral girdle and trunk muscles and finally the masseters and temporal muscles. The spasms usually spare the facial muscles. Severe spasms can interfere with respiration and speech. During an attack-free period, non-stimulus-sensitive myoclonus can occur in the arms, legs and neck. Diarrhea occurs in the first 2–3 years with intolerance to carbohydrate and high glucose diets. Endocrinopathy manifests as amenorrhea and hypoplasia of the uterus. Affected children fail to attain height after 10–12 years of age.

The syndrome is not known to be a primary cause of mortality, but some patients have died as a result of secondary complications, such as respiratory failure and malnourishment.

In one 6-year-old patient antibodies to GABA-producing enzyme glutamate decarboxylase were detected.

People may vomit or retch six to twelve times an hour, and an episode may last from a few hours to well over three weeks, and in some cases months, with a median episode duration of 41 hours. Acid, bile and (if the vomiting is severe) blood may be vomited. Some sufferers will ingest water to reduce the irritation of bile and acid on the esophagus during emesis. Between episodes the sufferer is usually normal and healthy otherwise but can be in a weak state of fatigue or suffer from muscle pain. In approximately half of cases the attacks, or episodes, occur in a time-related manner. Each attack is stereotypical; that is, in any given individual, the timing, frequency and severity of attacks is similar.

Episodes may happen every few days, every few weeks or every few months. For some there is not a pattern in time that can be recognized. Some sufferers have a warning of an attack. They may experience a prodrome, usually intense nausea and pallor, heightened sensitivity, especially to light, though sensitivity to smell, sound, pressure, and temperature, as well as oncoming muscle pain and fatigue, are also reported by some patients. The majority of sufferers can identify triggers that may precipitate an attack. The most common are various foods, infections (such as colds), menstruation, extreme physical exertion, lack of sleep, and psychological stresses both positive and negative.

A sufferer may also be light-sensitive (photophobic) during an attack, as well as sound-sensitive (phonophobic) and, less frequently, temperature- or pressure-sensitive. Some sufferers also have a strong urge to bathe in warm or cold water. Some sufferers report that they experience a restless sensation or stinging pain along the spine, hands, and feet followed by weakness in both legs. Some of these symptoms may be due to dehydration rather than the underlying cause of CVS.

Other conditions that can produce similar symptoms include: akathisia and nocturnal leg cramps.

Peripheral artery disease and arthritis can also cause leg pain but this usually gets worse with movement.

Cyclic vomiting syndrome (US English) or cyclical vomiting syndrome (UK English) (CVS) is a chronic functional condition of unknown cause characterised by recurring attacks of intense nausea, vomiting, and sometimes abdominal pain, headaches, or migraines. CVS typically develops during childhood, usually between ages 3 and 7; although it often remits during adolescence, it can persist into adult life.

In 2003, a US National Institutes of Health (NIH) panel modified their criteria to include the following:

- An urge to move the limbs with or without sensations.

- Improvement with activity. Many patients find relief when moving and the relief continues while they are moving. In more severe RLS this relief of symptoms may not be complete or the symptoms may reappear when the movement ceases.

- Worsening at rest. Patients may describe being the most affected when sitting for a long period of time, such as when traveling in a car or airplane, attending a meeting, or watching a performance. An increased level of mental awareness may help reduce these symptoms.

- Worsening in the evening or night. Patients with mild or moderate RLS show a clear circadian rhythm to their symptoms, with an increase in sensory symptoms and restlessness in the evening and into the night.

In medicine, aortoiliac occlusive disease, also known as Leriche's syndrome and Leriche syndrome, is a form of central artery disease involving the blockage of the abdominal aorta as it transitions into the common iliac arteries.

Classically, it is described in male patients as a triad of the following signs and symptoms:

1. claudication of the buttocks and thighs

2. absent or decreased femoral pulses

3. erectile dysfunction

This combination is known as Leriche syndrome. However, any number of symptoms may present, depending on the distribution and severity of the disease, such as muscle atrophy, slow wound healing in the legs, and critical limb ischemia.

Jactitation is an archaic medical term (derived, perhaps as a corruption, from "jactation", meaning a restless tossing and turning of the body, and derived itself from Latin "jactare" or "jacere", both meaning "to throw or hurl") referring to the involuntary spasm of a limb, muscle, or muscle group. This is sometimes seen in fever patients or other situations of physical distress, but may occur in healthy individuals in a hypnogogic state. This hypnagogic jactitation often occurs in the legs, and may occasion a short explanatory dream about stumbling or missing the bottom stair.

Most of the signs of MWS are present during the neonatal period. The most common signs at this state are multiple congenital joint contractures, dysmorphic features with mask-like face, blepharophimosis, ptosis, micrognathia, cleft or high arched palate, low-set ears, arachnodactyly, chest deformation as pectus, kyphoscoliosis and absent deep tendon reflexes are frequent minor malformations have also been described and consist of renal anomalies, cardiovascular abnormalities, hypospadias, omphalomesenteric duct, hypertriphic pyloric stenosis, duodenal bands, hyoplastic right lower lobe of the lung, displacement of the larynx to the right and vertebral abnormalities, cerebral malformations.

- 75% of children with MWS have blepharophimosis, small mouth, micrognathia, kyphosis/scoliosis, radio ulnar synostose and multiple contractures.

- They have severe developmental delay; congenital joint contractures and blepharophimosis should be present in every patient

- 2 out of 3 of the following signs should be manifested: post natal growth, mask-like faces, retardation, and decreased muscular mass.

- Some may require additional signs such as; micrognathia, high arched or cleft palate, low set ears, kyphoscoliosis.

- The symptoms of MWS are normally diagnosed during the newborn period

Symptoms range in severity from mild to disabling.

Symptoms are common, but vague and non-specific for the condition. The most common are feeling tired, "brain fog" (short-term memory problems, difficulty concentrating), gastrointestinal problems, headaches, and muscle pain.

A partial list of other symptoms patients have attributed to MCS include: difficulty breathing, pains in the throat, chest, or abdominal region, skin irritation, headaches, neurological symptoms (nerve pain, pins and needles feelings, weakness, trembling, restless leg syndrome), tendonitis, seizures, visual disturbances (blurring, halo effect, inability to focus), anxiety, panic and/or anger, sleep disturbance, suppression of immune system, digestive difficulties, nausea, indigestion/heartburn, vomiting, diarrhea, joint pains, vertigo/dizziness, abnormally acute sense of smell (hyperosmia), sensitivity to natural plant fragrance or natural pine terpenes, dry mouth, dry eyes, and an overactive bladder.

The natural history of MWS is not well known: many patients died in infancy and clinical follow-up has been reported in few surviving adults. However, diagnosis may be more difficult to establish in adults patients, such as: blepharophimosis, contractures, growth retardation, and developmental delay, whereas minor face anomalies are less noticeable as the patient grows older. Throughout the development of the patient from young child to older adult changes the behavior drastically, from kindness to restless and hyperactive to aggressive.

Although dysesthesia is similar to phantom limb syndrome, they should not be confused. In phantom limb, the sensation is present in an amputated or absent limb, while dysesthesia refers to discomfort or pain in a tissue that has not been removed or amputated. The dysesthetic tissue may also not be part of a limb, but part of the body, such as the abdomen. The majority of individuals with both phantom limb and dysesthesia experience painful sensations.

Phantom pain refers to dysesthetic feelings in individuals who are paralyzed or who were born without limbs. It is caused by the improper innervation of the missing limbs by the nerves that would normally innervate the limb. Dysesthesia is caused by damage to the nerves themselves, rather than by an innervation of absent tissue.

Dysesthesia should not be confused with anesthesia or hypoesthesia, which refer to a loss of sensation, or paresthesia which refers to a distorted sensation. Dysesthesia is distinct in that it can, but not necessarily, refer to spontaneous sensations in the absence of stimuli. In the case of an evoked dysesthetic sensation, such as by the touch of clothing, the sensation is characterized not simply by an exaggeration of the feeling, but rather by a completely inappropriate sensation such as burning.

Dysesthesia can generally be described as a class of neurological disorders. It can be further classified depending on where it manifests in the body, and by the type of sensation that it provokes.

Cutaneous dysesthesia is characterized by discomfort or pain from touch to the skin by normal stimuli, including clothing. The unpleasantness can range from a mild tingling to blunt, incapacitating pain.

Scalp dysesthesia is characterized by pain or burning sensations on or under the surface of the cranial skin. Scalp dysesthesia may also present as excessive itching of the scalp.

Occlusal dysesthesia, or "phantom bite", is characterized by the feeling that the bite is "out of place" (occlusal dystopia) despite any apparent damage or instability to dental or oromaxillofacial structures or tissue. Phantom bite often presents in patients that have undergone otherwise routine dental procedures. Short of compassionate counseling, evidence for effective treatment regimes is lacking.

SFMS affects the skeletal and nervous system. This syndrome's external signs would be an unusual facial appearance with their heads being slightly smaller and unusually shaped, a narrow face which is also called dolichocephaly, a large mouth with a drooping lower lip that are held open, protruding upper jaw, widely spaced upper front teeth, an underdeveloped chin, cleft palate and exotropied-slanted eyes with drooping eyelids.

Males who have SFMS have short stature and a thin body build. Also skin is lightly pigmented with multiple freckles. They may have scoliosis and chest abnormalities.

Affected boys have reduced muscle tone as infants and young children. X-rays sometimes show that their bones are underdeveloped and show characteristics of younger bones of children. Boys usually under the age of 10 have reduced muscle tone but later, patients with SFMS over the age of 10 have increased muscle tone and reflexes that cause spasticity. Their hands are short with unusual palm creases with short, shaped fingers and foot abnormalities are shortened and have fused toes and usually mild.

They have an absent of a spleen and the genitals may also show undescended testes ranging from mild to severe that leads to female gender assignment.

People who have SFMS have severe mental retardation. They are sometimes restless, behavior problems, seizures and severe delay in language development. They are self-absorbed with reduced ability to socialize with others around them. They also have psychomotor retardation which is the slowing-down of thoughts and a reduction of physical movements. They have cortical atrophy or degeneration of the brain's outer layer. Cortical atrophy is usually founded in older affected people.

Most RMD symptoms are relatively passive and do not cause any pain. Many patients are often unaware that an episode is occurring or has occurred. The rhythmic movements may produce some bodily injury via falls or muscle strains, but this is not reported in all patients

. In unique cases, RMD sufferers hum or moan while asleep during an episode. Some patients describe the repetitive movements as relaxing and are only occasionally awakened by an RMD episode. Often, it is the sufferer’s partner or parent who first notes the symptoms. Additionally, it is often the partner or parent who led patients to seek medical attention.

The signs and symptoms of "activated PI3K Delta Syndrome" are consistent with the following:

- Immunodeficiency

- Lymphadenopathy

- Sinopulmonary infections

- Bronchiectasis

Multiple chemical sensitivity (MCS), also known as idiopathic environmental intolerances (IEI), is a disputed chronic condition characterized by symptoms that the affected person attributes to low-level exposures to commonly used chemicals. Symptoms are typically vague and non-specific. They may include fatigue, headaches, nausea, and dizziness.

Commonly attributed substances include scented products, pesticides, plastics, synthetic fabrics, smoke, petroleum products, and paint fumes.

Although the symptoms themselves are real, and can be disabling, MCS is not recognized as an organic, chemical-caused illness by the World Health Organization, American Medical Association, or any of several other professional medical organizations. Blinded clinical trials show that people with MCS react as often and as strongly to placebos as they do to chemical stimuli; the existence and severity of symptoms is related to perception that a chemical stimulus is present. Some attribute the symptoms to depression, somatoform disorders, or anxiety disorders.

Rhythmic Movement Disorder (or RMD) is a neurological disorder characterized by involuntary (however may sometimes be voluntary), repetitive movements of large muscle groups immediately before and during sleep often involving the head and neck. It was independently described first in 1905 by Zappert as jactatio capitis nocturna and by Cruchet as rhythmie du sommeil. The majority of RMD episodes occur during NREM sleep, although REM movements have been reported. RMD is often associated with other psychiatric conditions or mental retardation. The disorder often leads to bodily injury from unwanted movements. Because of these incessant muscle contractions, patients’ sleep patterns are often disrupted. It differs from Restless Legs Syndrome in that RMD involves involuntary muscle contractions before and during sleep while Restless Legs Syndrome is the urge to move before sleep. RMD occurs in both males and females, often during early childhood with symptoms diminishing with age. Many sufferers also have other sleep related disorders, like sleep apnea. The disorder can be differentially diagnosed into small subcategories, including sleep related bruxism, thumb sucking, hypnagonic foot tremor, and rhythmic sucking, to name a few. In order to be considered pathological, the ICSD-II requires that in the sleep-related rhythmic movements should “markedly interfere with normal sleep, cause significant impairment in daytime function, or result in self-inflicted bodily injury that requires medical treatment (or would result in injury if preventive measures were not used)”

Signs of Seaver Cassidy syndrome include several facial disorders, including hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, a broad nasal bridge, malar hypoplasia, a thin upper lip, a smooth philtrum, and low-set, prominent ears. Males with Seaver Cassidy syndrome may also experience an underdeveloped shawl scrotum and cryptorchidism. Skeletal anomalies, such genu valgum, hyperextended joints, or cubitus valgus, may also be present.

Physical arousal caused by this syndrome can be very intense and persist for extended periods, days or weeks at a time. Orgasm can sometimes provide temporary relief, but within hours the symptoms return. The return of symptoms, with the exception of known triggers, is sudden and unpredictable. Failure or refusal to relieve the symptoms often results in waves of spontaneous orgasms in women and ejaculation in men. The symptoms can be debilitating, preventing concentration on mundane tasks. Some situations, such as riding in an automobile or train, vibrations from mobile phones, and even going to the toilet can aggravate the syndrome unbearably causing the discomfort to verge on pain. It is not uncommon for sufferers to lose some or all sense of pleasure over the course of time as release becomes associated with relief from pain rather than the experience of pleasure. Some sufferers have said that they shun sexual relations, which they may find to be a painful experience. The condition may last for many years and can be so severe that it has been known to lead to depression and even suicide.

A Dutch study has connected PGAD with restless legs syndrome.

Activated PI3K delta syndrome is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene. Which encodes the p110δ catalytic subunit of PI3Kδ, APDS-2 (PASLI-R1) is caused by exon-skipping mutations in PIK3R1 which encodes for the regulatory subunit p85α. APDS and APDS-2 affected individuals present with similar symptoms, which include increased susceptibility to airway infections, bronchiectasis and lymphoproliferation.

Over the past thirty years, several studies have found that those afflicted with NSRED all have different symptoms and behaviors specific to them, yet they also all have similar characteristics that doctors and psychologists have identified to distinguish NSRED from other combinations of sleep and eating disorders such as night eating syndrome. Winkelman says that typical behaviors for patients with NSRED include: "Partial arousals from sleep, usually within 2 to 3 hours of sleep onset, and subsequent ingestion of food in a rapid or 'out of control' manner." They also will attempt to eat bizarre amalgamations of foods and even potentially harmful substances such as glue, wood, or other toxic materials. In addition, Schenck and Mahowald noted that their patients mainly ate sweets, pastas, both hot and cold meals, improper substances such as "raw, frozen, or spoiled foods; salt or sugar sandwiches; buttered cigarettes; and odd mixtures prepared in a blender."

During the handling of this food, patients with NSRED distinguish themselves, as they are usually messy or harmful to themselves. Some eat their food with their bare hands while others attempt to eat it with utensils. This occasionally results in injuries to the person as well as other injuries. After completing their studies, Schenck and Mahowald said, "Injuries resulted from the careless cutting of food or opening of cans; consumption of scalding fluids (coffee) or solids (hot oatmeal); and frenzied running into walls, kitchen counters, and furniture." A few of the more notable symptoms of this disorder include large amounts of weight gain over short periods of time, particularly in women; irritability during the day, due to lack of restful sleep; and vivid dreams at night. It is easily distinguished from regular sleepwalking by the typical behavioral sequence consisting of "rapid, 'automatic' arising from bed, and immediate entry into the kitchen." In addition, throughout all of the studies done, doctors and psychiatrists discovered that these symptoms are invariant across weekdays, weekends, and vacations as well as the eating excursions being erratically spread throughout a sleep cycle. Most people that suffer from this disease retain no control over when they arise and consume food in their sleep. Although some have been able to restrain themselves from indulging in their unconscious appetites, some have not and must turn to alternative methods of stopping this disorder. It is important for trained physicians to recognize these symptoms in their patients as quickly as possible, so those with NSRED may be treated before they injure themselves.

Familial partial lipodystrophy (FPL), also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.

FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat.

As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications.

Seaver Cassidy syndrome is a very rare disorder characterized by certain facial, genital, and skeletal deformities, as well as an unusual susceptibility to bleeding. Seaver Cassidy syndrome was first described in 1991 by Laurie Seaver and Suzanne Cassidy.

Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles. These joints tend to be permanently fixed in a bent or flexed position (contractures). Gordon syndrome is characterized by the permanent fixation of several fingers in a flexed position (camptodactyly), abnormal bending inward of the foot (clubfoot or talipes), and, less frequently, incomplete closure of the roof of the mouth (cleft palate). In some cases, additional abnormalities may also be present. The range and severity of symptoms may vary from case to case. Gordon syndrome is inherited as an autosomal dominant trait.