There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia.

People with ED often have certain cranial-facial features which can be distinctive: frontal bossing is common, longer or more pronounced chins are frequent, broader noses are also very common. In some types of ED, abnormal development of parts of the eye can result in dryness of the eye, cataracts, and vision defects. Professional eye care can help minimize the effects of ED on vision. Similarly, abnormalities in the development of the ear may cause hearing problems. Respiratory infections can be more common because the normal protective secretions of the mouth and nose are not present. Precautions must be taken to limit infections.

Diagnosis can be made solely on the basis of history and physical examination in people who present with only facial asymmetry. For those who report neurological symptoms such as migraine or seizures, MRI scan of the brain is the imaging modality of choice. A diagnostic lumbar puncture and serum test for autoantibodies may also be indicated in people who present with a seizure disorder of recent onset.

The development of tooth buds frequently results in congenitally absent teeth (in many cases a lack of a permanent set) and/or in the growth of teeth that are peg-shaped or pointed. The enamel may also be defective. Cosmetic dental treatment is almost always necessary and children may need dentures as early as two years of age. Multiple denture replacements are often needed as the child grows, and dental implants may be an option in adolescence, once the jaw is fully grown. Nowadays the option of extracting the teeth and substituting them with dental implants is quite common. In other cases, teeth can be crowned. Orthodontic treatment also may be necessary. Because dental treatment is complex, a multi-disciplinary approach is best.

Ellis–van Creveld Syndrome (also called "chondroectodermal dysplasia" or "mesoectodermal dysplasia" but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type.

MDM is most common on the Dalmatian island of Mljet (or "Meleda"), thought to be because of a founder effect. It is of autosomal recessive inheritance. It may be caused by a mutation on the "SLURP1" gene, located on chromosome 8.

Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, (also known as "Acral keratoderma," "Mutilating palmoplantar keratoderma of the Gamborg-Nielsen type," "Palmoplantar ectodermal dysplasia type VIII", and "Palmoplantar keratoderma of the Norrbotten type") is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.

Naxos disease (also known as "Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy," "Diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy firstly described in Naxos island by Dr Nikos Protonotarios," and "Naxos disease") is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is about 1 person in 1000 in the Hellenic islands.

It has been associated with mutations in the genes encoding desmoplakin and plakoglobin.

Gigantiform cementoma is a rare, autosomal dental tumor. It is benign, but without intervention it can result in severe disfigurement of the jaw. The cause of this tumor is currently unknown. This is an exceedingly rare tumor with only a handful of documented cases worldwide. The most famous case is of Novemthree Siahaan (who died on September 15, 2005), a young Indonesian boy from Batam Island who received medical care in Haulien, Taiwan through a Buddhist missionary from the Tzu Chi Foundation, which was documented on the Discovery Health Channel. Another famous case is a young Korean girl named Ayun Lee (August 26, 2003~) and her father Young-hak Lee whose case has shown that the tumor can be heritable. She is currently under treatment, which she may need to continue until her growth stops in her early 20s.

The term has been used in the past to describe florid cemento-osseous dysplasia, but it is now reserved for an autosomal dominant condition affecting the maxillae. It affects mostly Caucasian people under the age of 10. Treatment is difficult. Surgical removal of the affected bone is needed, and has to be followed by reconstruction.

Affected individuals may benefit from autologous fat transfer or fat grafts to restore a more normal contour to the face. However, greater volume defects may require microsurgical reconstructive surgery which may involve the transfer of an island parascapular fasciocutaneous flap or a free flap from the groin, rectus abdominis muscle (Transverse Rectus Abdominis Myocutaneous or "TRAM" flap) or latissimus dorsi muscle to the face. Severe deformities may require additional procedures, such as pedicled temporal fascia flaps, cartilage grafts, bone grafts, orthognathic surgery, and bone distraction. The timing of surgical intervention is controversial; some surgeons prefer to wait until the disease has run its course while others recommend early intervention.

There is no cure for XDP and medical treatment offers only temporary relief. Some authors have reported benzodiazepines and anticholinergic agents in the early stages of the disease. Botulinum toxin injections have been used to relieve focal dystonia. Deep brain stimulation has shown promise in the few cases treated surgically.

X-linked dystonia parkinsonism (XDP), also known as Lubag Syndrome or X-linked Dystonia of Panay, is a rare x-linked progressive movement disorder with high penetrance found almost exclusively in males from the Panay, Philippines. It is characterized by dystonic movements first typically occurring in the 3rd and 4th decade of life. The dystonic movements often either coexist or develop into parkinsonism within 10 years of disease onset.

The opioid antagonist naloxone allowed a woman with congenital insensitivity to pain to experience it for the first time. Similar effects were observed in Na1.7 null mice treated with naloxone. As such, opioid antagonists like naloxone and naltrexone may be effective in treating the condition.

There is no known treatment for FTS, as the cause is not yet known. There are conflicting reports on whether the paralysis is reversible; some sources claim that moving an elephant away from the area in which it contracted the condition will allow it to recover, while others claim that damage to the trunk is irreversible.

In some extreme cases, wildlife managers have killed affected elephants for humane reasons.

Lucio Godina (March 8, 1908 – November 24, 1936) and Simplicio Godina (March 8, 1908 - December 8, 1936) were pygopagus conjoined twins from the island of Samar in the Philippines.

At the age of 21 they married Natividad and Victorina Matos, who were identical twins. They performed in various sideshow acts, including in an orchestra on Coney Island and in dance with their wives.

After Lucio died of rheumatic fever in New York City, doctors operated to separate him from Simplicio. Simplicio survived the operation, but died shortly thereafter due to spinal meningitis.

Congenital insensitivity to pain is found in Vittangi, a village in Kiruna Municipality in northern Sweden, where nearly 40 cases have been reported. A few Americans also have it.

The diagnosis by symptoms is not reliable enough so it’s better to do a molecular diagnosis based in test samples. Some of these methods (like Dot-blot hybridisation) allow the scientists to detect the viroid even six months before noticing the first symptoms.

The first step is the purification to obtain the nucleic acids of the plant cells. The leaves of the plant located four or more below the spare leaf are cut. Afterwards, they are blended (homogenize) with sodium sulfite. Then the extract is filtered and clarified by centrifugation (10.000 g during 10 minutes). The next step is to add polyethylene glycol (PEG). Finally, after nearly two hours of incubation at 4 °C, and after another centrifugation (at low speed) the nucleic acids can be extracted by chloroform procedures, for example.

When approximately 1 g of coconut tissue has been purified, the electrophoresis method can be started, which will help to identify the viroid by its relative mobility. The CCCVd is analysed in one or two dimensional polyacrylamide gels with a silver stain.

The viroid can also be detected by a more sensitive method called dot blot molecular hybridization. In this method CCCVd is amplified by the PCR (polymerase chain reaction) and the clones of CCCVd are used as templates to synthesize a complementary DNA or RNA chain. These sequences are radioactively labelled so when they are put over the samples with the intention to analyse (on a supporting membrane) and exposed to x-ray film, then if CCCVd is present it will appear as a dark colour. This dark tonality only appears when nucleic acid hybridisation occurs.

An enostosis or bone island is a small area of compact bone within the cancellous bone. They are commonly seen as an incidental finding on radiographs or CT scans. They are typically very small and do not cause any symptoms. No treatment is necessary. Multiple enostoses are present in osteopoikilosis.

Polymelia (from Greek πολυ- = "many" plus μέλος (plural μέλεα) = "limb") also known as "hydra syndrome" is a birth defect involving limbs (a type of dysmelia), in which the affected individual has more than the usual number of limbs. In humans and most land-dwelling animals, this means having five or more limbs. The extra limb is most commonly shrunken and/or deformed.

Sometimes an embryo started as conjoined twins, but one twin degenerated completely except for one or more limbs, which end up attached to the other twin.

Sometimes small extra legs between the normal legs are caused by the body axis forking in the dipygus condition.

Floppy trunk syndrome (abbreviated FTS, also known as flaccid trunk paralysis) is a condition that causes trunk paralysis in African bush elephants. Initially observed in 1989, the syndrome primarily affected bull elephants in several select regions in Zimbabwe. Afflicted elephants exhibit paralysis in their trunk, often having to adapt to feed. The loss of their trunks' prehensile abilities results in malnutrition and possibly death. The condition is a result of degeneration of nerves in the trunk, and is suggested to be a result of either heavy metals or toxins. There is debate over whether the condition is reversible.

There are drugs that can increase serum HDL such as niacin or gemfibrozil. While these drugs are useful for patients with hyperlipidemia, Tangier's disease patients do not benefit from these pharmaceutical interventions.

Therefore, the only current treatment modality for Tangier's disease is diet modification. A low-fat diet can reduce some of the symptoms, especially those involving neuropathies.

Insular dwarfism, a form of phyletic dwarfism, is the process and condition of the reduction in size of large animals over a number of generations when their population's range is limited to a small environment, primarily islands. This natural process is distinct from the intentional creation of dwarf breeds, called dwarfing. This process has occurred many times throughout evolutionary history, with examples including dinosaurs, like "Europasaurus", and modern animals such as elephants and their relatives. This process, and other "island genetics" artifacts, can occur not only on traditional islands, but also in other situations where an ecosystem is isolated from external resources and breeding. This can include caves, desert oases, isolated valleys and isolated mountains ("sky islands"). Insular dwarfism is one aspect of the more general "island rule", which posits that when mainland animals colonize islands, small species tend to evolve larger bodies, and large species tend to evolve smaller bodies.

High-density lipoproteins are created when a protein in the bloodstream, Apolipoprotein A1 (apoA1), combines with cholesterol and phospholipids. The cholesterol and phospholipids used to form HDL originate from inside cells but are transported out of the cell into the blood via the ABCA1 transporter. People with Tangier disease have defective ABCA1 transporters resulting in a greatly reduced ability to transport cholesterol out of their cells, which leads to an accumulation of cholesterol and phospholipids in many body tissues, which can cause them to increase in size. Reduced blood levels of high-density lipoproteins is sometimes described as hypoalphalipoproteinemia.

People affected by this condition also have slightly elevated amounts of fat in the blood (mild hypertriglyceridemia) and disturbances in nerve function (neuropathy). The tonsils are visibly affected by this disorder; they frequently appear orange or yellow and are extremely enlarged. Affected people often develop premature atherosclerosis, which is characterized by fatty deposits and scar-like tissue lining the arteries. Other signs of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the cornea, and early-onset cardiovascular disease.

Tangier disease is a rare disorder with approximately 50 cases identified worldwide. This disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many different countries.

Studies suggest that persons with PDD-NOS belong to one of three very different subgroups:

- A high-functioning group (around 25 percent) whose symptoms largely overlap with that of Asperger syndrome, but who differ in terms of having a lag in language development and/or mild cognitive impairment. (The criteria for Asperger syndrome excludes a speech delay or a cognitive impairment.)

- A group (around 25 percent) whose symptoms more closely resemble those of autism spectrum disorder, but do not fully meet all its diagnostic signs and symptoms.

- The biggest group (around 50 percent) consists of those who meet all the diagnostic criteria for autism spectrum disorder, but whose stereotypical and repetitive behaviors are noticeably mild.

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.