There is currently no treatment or cure for Waardenburg syndrome. The symptom most likely to be of practical importance is deafness, and this is treated as any other irreversible deafness would be. In marked cases there may be cosmetic issues. Other abnormalities (neurological, structural, Hirschsprung disease) associated with the syndrome are treated symptomatically.

Subtypes of the syndrome are traceable to different genetic variations and presentations:

Type III is also known as Klein-Waardenburg syndrome, and type IV is also known as Waardenburg-Shah syndrome.

Since Usher syndrome is incurable at present, it is helpful to diagnose children well before they develop the characteristic night blindness. Some preliminary studies have suggested as many as 10% of congenitally deaf children may have Usher syndrome. However, a misdiagnosis can have bad consequences.

The simplest approach to diagnosing Usher syndrome is to test for the characteristic chromosomal mutations. An alternative approach is electroretinography, although this is often disfavored for children, since its discomfort can also make the results unreliable. Parental consanguinity is a significant factor in diagnosis. Usher syndrome I may be indicated if the child is profoundly deaf from birth and especially slow in walking.

Thirteen other syndromes may exhibit signs similar to Usher syndrome, including Alport syndrome, Alstrom syndrome, Bardet-Biedl syndrome, Cockayne syndrome, spondyloepiphyseal dysplasia congenita, Flynn-Aird syndrome, Friedreich ataxia, Hurler syndrome (MPS-1), Kearns-Sayre syndrome (CPEO), Norrie syndrome, osteopetrosis (Albers-Schonberg disease), Refsum's disease (phytanic acid storage disease), and Zellweger syndrome (cerebrohepatorenal syndrome).

Since Usher syndrome results from the loss of a gene, gene therapy that adds the proper protein back ("gene replacement") may alleviate it, provided the added protein becomes functional. Recent studies of mouse models have shown one form of the disease—that associated with a mutation in myosin VIIa—can be alleviated by replacing the mutant gene using a lentivirus. However, some of the mutated genes associated with Usher syndrome encode very large proteins—most notably, the "USH2A" and "GPR98" proteins, which have roughly 6000 amino-acid residues. Gene replacement therapy for such large proteins may be difficult.

Paris syndrome (, , "Pari shōkōgun") is a transient mental disorder exhibited by some individuals when visiting or going on vacation to Paris, as a result of extreme shock derived from their discovery that Paris is not what they had expected it to be. The syndrome is characterized by a number of psychiatric symptoms such as acute delusional states, hallucinations, feelings of persecution (perceptions of being a victim of prejudice, aggression, or hostility from others), derealization, depersonalization, anxiety, and also psychosomatic manifestations such as dizziness, tachycardia, sweating, and others, such as vomiting. Similar syndromes include Jerusalem syndrome and Stendhal syndrome. The condition is commonly viewed as a severe form of culture shock. It is particularly noted among Japanese travelers.

Professor Hiroaki Ota, a Japanese psychiatrist working in France, is credited as the first person to diagnose the condition in 1986. However, later work by Youcef Mahmoudia, physician with the hospital Hôtel-Dieu de Paris, indicates that Paris syndrome is "a manifestation of psychopathology related to the voyage, rather than a syndrome of the traveller." He theorized that the excitement resulting from visiting Paris causes the heart to accelerate, causing giddiness and shortness of breath, which results in hallucinations in the manner similar to the Stendhal syndrome described by Italian psychiatrist Graziella Magherini in her book "La sindrome di Stendhal".

Among the medical signs are dacryocystitis, seizures, intellectual disability, and paralysis, each of which is a complication resulting from the diminutive foramina. A common sign reported as a result of the disease has been a difference of the size of the eyes.

Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy.

These calcium deposits decrease the size of cranial foramina, and can also decrease the hole in the cervical spinal canal. In the few cases recorded, most of the sufferers died in childhood.

The underlying genetics are uncertain.

Loss of language and skills related to social interaction and self-care are serious. The affected children face ongoing disabilities in certain areas and require long term care. Treatment of CDD involves both behavior therapy, environmental therapy and medications.

- Behavior therapy: The main aim of Applied Behavior Analysis (ABA) is to systematically teach the child to relearn language, self-care and social skills. The treatment programs designed in this respect "use a system of rewards to reinforce desirable behaviors and discourage problem behavior." ABA programs may be designed by a board-certified specialist in behavior analysis called a "BCBA" (Board Certified Behavior Analyst), but ABA is also widely used by a number of other health care personnel from different fields like psychologists, speech therapists, physical therapists and occupational therapists with differing levels of expertise. Parents, teachers and caregivers are instructed to use these behavior therapy methods at all times.

- Environmental Therapy: Sensory Enrichment Therapy uses enrichment of the sensory experience to improve symptoms in autism, many of which are common to CDD.

- Medications: There are no medications available to directly treat CDD. Antipsychotic medications are used to treat severe behavior problems like aggressive stance and repetitive behavior patterns. Anticonvulsant medications are used to control seizures.

Because there is uncertainty in treating suspected factitious disorder imposed on self, some advocate that health care providers first explicitly rule out the possibility that the person has another early-stage disease. Then they may take a careful history and seek medical records to look for early deprivation, childhood abuse, or mental illness. If a person is at risk to themself, psychiatric hospitalization may be initiated.

Healthcare providers may consider working with mental health specialists to help treat the underlying mood or disorder as well as to avoid countertransference. Therapeutic and medical treatment may center on the underlying psychiatric disorder: a mood disorder, an anxiety disorder, or borderline personality disorder. The patient's prognosis depends upon the category under which the underlying disorder falls; depression and anxiety, for example, generally respond well to medication and/or cognitive behavioral therapy, whereas borderline personality disorder, like all personality disorders, is presumed to be pervasive and more stable over time, and thus offers a worse prognosis.

People affected may have multiple scars on their abdomen due to repeated "emergency" operations.

Chronic radiation syndrome is a constellation of health effects that occur after months or years of chronic exposure to high amounts of ionizing radiation. Chronic radiation syndrome develops with a speed and severity proportional to the radiation dose received, i.e., it is a deterministic effect of radiation exposure, unlike radiation-induced cancer. It is distinct from acute radiation syndrome in that it occurs at dose rates low enough to permit natural repair mechanisms to compete with the radiation damage during the exposure period. Dose rates high enough to cause the acute form (> ~0.1 Gy/h) are fatal long before onset of the chronic form. The lower threshold for chronic radiation syndrome is between 0.7 and 1.5 Gy, at dose rates above 0.1 Gy/yr. This condition is primarily known from the Kyshtym disaster, where 66 cases were diagnosed, and has received little mention in Western literature. A future ICRP publication, currently in draft, may recognize the condition but with higher thresholds.

In 2013, Alexander V. Akleyev described the chronology of the clinical course or CRS while presenting at ConRad in Munich, Germany. In his presentation, he defined the latent period as being 1-5 years, and the formation coinciding with the period of maximum radiation dose. The recovery period was described as being 3-12 months after exposure ceased. He concluded that "CRS represents a systemic response of the body as a whole to the chronic total body exposure in man." In 2014, Akleyev's book "Comprehensive analysis of chronic radiation syndrome, covering epidemiology, pathogenesis, pathoanatomy, diagnosis and treatment" was published by Springer.

Diagnosing factitious disorder imposed on self requires a clinical assessment. Clinicians should be aware that those presenting with symptoms (or persons reporting for that person) may malinger, and caution should be taken to ensure there is evidence for a diagnosis. Lab tests may be required, including complete blood count (CBC), urine toxicology, drug levels from blood, cultures, coagulation tests, assays for thyroid function, or DNA typing. In some cases CT scan, magnetic resonance imaging, psychological testing, electroencephalography, or electrocardiography may also be employed. A summary of more common and reported cases of factitious disorder (Munchausen syndrome), and the laboratory tests used to differentiate these from authentic disease is provided below:

There are several symptoms that together point to factitious disorder, including frequent hospitalizations, knowledge of several illnesses, frequently requesting medication such as pain killers, openness to extensive surgery, few or no visitors during hospitalizations, and exaggerated or fabricated stories about several medical problems. Factitious disorder should not be confused with hypochondria, as people with factitious disorder syndrome do not really believe they are sick; they only want to be sick, and thus fabricate the symptoms of an illness. It is also not the same as pretending to be sick for personal benefit such as being excused from work or school.

People may fake their symptoms in multiple ways. Other than making up past medical histories and faking illnesses, people might inflict harm on themselves by consuming laxatives or other substances, self-inflicting injury to induce bleeding, and altering laboratory samples.” Many of these conditions do not have clearly observable or diagnostic symptoms and sometimes the syndrome will go undetected because patients will fabricate identities when visiting the hospital several times. Factitious disorder has several complications, as these people will go to great lengths to fake their illness. Severe health problems, serious injuries, loss of limbs or organs, and even death are possible complications.

Even though more studies are necessary for an efficient evaluation of the role played by zinc in senile osteoporosis, doctors recommend a proper supplementation of dietary zinc.

Replacement estrogen has proved to be an efficient way to combat the loss of bone mass in women when such treatment is started in the menopausal stage of their lives. John R. Lee, a Harvard graduate who wrote a book on the subject, came to the conclusion that by adding supplementation with natural progesterone to an existing natural osteoporosis treatment program, bone density was increased every year by 3-5% until it stabilized at the bone density levels expected for a 35-year-old woman, this after studies in 100 women between 38 and 83 with an average of 62 years old.

A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem, which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. Genetic testing is able to identify individuals who are genetically predisposed to certain diseases.

Several criteria are typically used to make a diagnosis of koro. The primary criteria is a patient's report of genital (typically penile or female nipple) retraction despite a lack of objective physical evidence demonstrating retraction. This is accompanied by severe anxiety related to the retraction, fear of death as a result of retraction, and use of mechanical means to prevent retraction. Cases that do not meet all the requirements are generally classified as koro-like symptoms or given a diagnosis of partial koro syndrome. It has been argued that the criteria are sufficient but not necessary to make a diagnosis of koro. Researchers have identified Koro as a possible "cultural relative" of Body Dysmorphic Disorder. DSM-IV explains the process of differential diagnosis between these two disorders.

A full medical, psychosexual and psychiatric history should be documented. The physician should explore the patient’s concerns about appearance and body image (ruling out body dysmorphic disorder). Additionally, the physician should inquire about overall beliefs, personal values, and assumptions that the patient is making about his or her genitals. Given that Koro is often an “attack” with a great deal of associated anxiety, the physician should ascertain the patient’s emotional state along with the timeline from onset to the presentation at the examination.

A physical examination should involve an assessment of overall health along with a detailed genital examination. In men, genital examination should be performed immediately after penile exposure, to avoid changes due to external temperature. The primary intent of the male exam is to exclude genuine penile anomalies such as hypospadias, epispadias and Peyronie's disease. The presence of a significant suprapubic fat pad should be noted as well. Careful measurements of flaccid length, stretched length and flaccid girth will also be useful. If male patients insist that their penis is shrinking and disappearing, measurements after intracavernosal alprostadil may be used in the office to determine the true erect length and to diagnose any penile abnormalities in the erect state. A physical examination should note any injuries inflicted by the patient in an effort to "prevent" retraction as further confirmation of Koro.

Stendhal syndrome, Stendhal's syndrome, hyperkulturemia, or Florence syndrome is a psychosomatic disorder that causes rapid heartbeat, dizziness, fainting, confusion and even hallucinations when an individual is exposed to an experience of great personal significance, particularly viewing art. It is not listed as a recognised condition in the "Diagnostic and Statistical Manual of Mental Disorders".

Ganglion cysts are diagnosed easily, as they are visible and pliable to touch.

Radiographs in AP and lateral views should be obtained to exclude any more serious underlying pathology. Ultrasonography (US) may be used to increase diagnostic confidence in clinically suspected lesions or to depict cysts, because intratendinous ganglia are readily distinguished from extratendinous ganglia during dynamic ultrasonography, as microscopically, ganglionic cysts are thin-walled cysts containing clear, mucinous fluid.

All of the causes of childhood disintegrative disorder are still unknown. Sometimes CDD surfaces abruptly within days or weeks, while in other cases it develops over a longer period of time. A Mayo Clinic report indicates: "Comprehensive medical and neurological examinations in children diagnosed with childhood disintegrative disorder seldom uncover an underlying medical or neurological cause. Although the occurrence of epilepsy is higher in children with childhood disintegrative disorder, experts don't know whether epilepsy plays a role in causing the disorder."

CDD, especially in cases of later age of onset, has also been associated with certain other conditions, particularly the following:

- Lipid storage diseases: In this condition, a toxic buildup of excess fats (lipids) takes place in the brain and nervous system.

- Subacute sclerosing panencephalitis: Chronic infection of the brain by a form of the measles virus causes subacute sclerosing panencephalitis. This condition leads to brain inflammation and the death of nerve cells.

- Tuberous sclerosis (TSC): TSC is a genetic disorder. In this disorder, tumors may grow in the brain and other vital organs like kidneys, heart, eyes, lungs, and skin. In this condition, noncancerous (benign) tumors, hamartomas, grow in the brain.

- Leukodystrophy: In this condition, the myelin sheath does not develop in a normal way causing white matter in the brain to disintegrate.

Visual release hallucinations, also known as Charles Bonnet syndrome (CBS), is the experience of complex visual hallucinations in a person with partial or severe blindness. First described by Charles Bonnet in 1760, it was first introduced into English-speaking psychiatry in 1982.

There is no treatment of proven effectiveness for CBS. Some people experience CBS for anywhere from a few days up to many years, and these hallucinations can last only a few seconds or continue for most of the day. For those experiencing CBS, knowing that they are suffering from this syndrome and not a mental illness seems to be the best treatment so far, as it improves their ability to cope with the hallucinations. Most people with CBS meet their hallucinations with indifference, but they can still be disturbing because they may interfere with daily life. Interrupting vision for a short time by closing the eyes or blinking is sometimes helpful.

Predisposition is the capacity we are born with to learn things such as language and concept of self. Negative environmental influences may block the predisposition (ability) we have to do some things. Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures.

For example, philosopher Daniel Dennett has proposed that humans are genetically predisposed to have a theory of mind because there has been evolutionary selection for the human ability to adopt the intentional stance. The "intentional stance" is a useful behavioral strategy by which humans assume that others have minds like their own. This assumption allows you to predict the behavior of others based on personal knowledge of what you would do.

E. O. Wilson's and his book Consilience discuss the idea of genetic predisposition to behaviors

The field of evolutionary psychology explores the idea that certain behaviors have been selected for during the course of evolution.

Definitive diagnosis relies on a blood test for alcohol, usually performed as part of a toxicology screen.

Law enforcement officers in the United States of America often use breathalyzer units and field sobriety tests as more convenient and rapid alternatives to blood tests.

There are also various models of breathalyzer units that are available for consumer use. Because these may have varying reliability and may produce different results than the tests used for law-enforcement purposes, the results from such devices should be conservatively interpreted.

Many informal intoxication tests exist, which, in general, are unreliable and not recommended as deterrents to excessive intoxication or as indicators of the safety of activities such as motor vehicle driving, heavy equipment operation, machine tool use, etc.

For determining whether someone is intoxicated by alcohol by some means other than a blood-alcohol test, it is necessary to rule out other conditions such as hypoglycemia, stroke, usage of other intoxicants, mental health issues, and so on. It is best if his/her behavior has been observed while the subject is sober to establish a baseline. Several well-known criteria can be used to establish a probable diagnosis. For a physician in the acute-treatment setting, acute alcohol intoxication can mimic other acute neurological disorders, or is frequently combined with other recreational drugs that complicate diagnosis and treatment.

The standard treatment for DIPG is 6 weeks of radiation therapy, which often dramatically improves symptoms. However, symptoms usually recur after 6 to 9 months and progress rapidly.

A brainstem stroke syndrome is a condition involving a stroke of the brainstem. Because of their location, they often involve impairment both of the cranial nuclei and of the long tracts.

A person may have vertigo, dizziness and severe imbalance without the hallmark of most strokes – weakness on one side of the body. The symptoms of vertigo, dizziness or imbalance usually occur together; dizziness alone is not a sign of stroke. Brainstem stroke can also cause diplopia, slurred speech and decreased level of consciousness. A more serious outcome is locked-in syndrome.