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.

Medical management may involve immunosuppressive drugs such as methotrexate, corticosteroids, cyclophosphamide, and azathioprine. No randomized controlled trials have yet been conducted to evaluate such treatments, so the benefits have not been clearly established.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

There is no known "cure" for PDD-NOS, but there are interventions that can have a positive influence. Early and intensive implementation of evidence-based practices and interventions are generally believed to improve outcomes. Most of these are individualized special education strategies rather than medical or pharmaceutical treatment; the best outcomes are achieved when a team approach among supporting individuals is utilized.

Some of the more common therapies and services include:

- Visual and environmental supports, visual schedules

- Applied behavior analysis

- Discrete trial instruction (part of applied behavior analysis)

- Social stories and comic strip conversations

- Physical and occupational therapy

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.

During the latest outbreak of the disease (2004), several treatment methods were tested. Main treatment involved the administration of antibiotics, in some cases glucose solution or dietary mixtures were additionally supplemented. Outcome of the different treatment methods varied greatly. Especially the success of antibiotic treatment and a widespread use on wild animals remains a matter of debate.

Coconut cadang-cadang disease has no treatment yet. However, chemotherapy with antibiotics has been tried with tetracycline solutions; antibiotics failed trying to alter progress of the disease since they had no significant effect on any of the studied parameters. When the treated plants were at the early stage, tetracycline injections failed to prevent the progression of the palms to more advanced stages, nor did they affect significantly the mean number of spathes or nuts. Penicillin treatment had no apparent improvement either.

Control strategies are elimination of reservoir species, vector control, mild strain protection and breeding for host resistance. Eradication of diseased plants is usually performed to minimize spread but is of dubious efficacy due to the difficulties of early diagnosis as the virus etiology remains unknown and the one discovered are the three main stages in the disease development.

There is generally no treatment to cure achromatopsia. However, dark red or plum colored filters are very helpful in controlling light sensitivity.

Since 2003, there is a cybernetic device called eyeborg that allows people to perceive color through sound waves. Achromatopsic artist Neil Harbisson was the first to use such a device in early 2004, the eyeborg allowed him to start painting in color by memorizing the sound of each color.

Moreover, there is some research on gene therapy for animals with achromatopsia, with positive results on mice and young dogs, but less effectiveness on older dogs. However, no experiments have been made on humans. There are many challenges to conducting gene therapy on humans. See Gene therapy for color blindness for more details about it.

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.

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.

Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more rare conditions in which a person cannot feel (and has never felt) physical pain. The conditions described here are separate from the HSAN group of disorders, which have more specific signs and cause. Because feeling physical pain is vital for survival, CIP is an extremely dangerous condition. It is common for people with the condition to die in childhood due to injuries or illnesses going unnoticed. Burn injuries are one of the more common injuries.

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.

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.

The use of antipsychotic medication is commonly the first line of treatment; however, the effectiveness after treatment is in question.

L-DOPA is effective against reduced affect display and emotional withdrawal, aloofness from society, apathy.