Once a diagnosis is made, the treatment is based on an individual’s clinical condition and may include standard management for autoimmunity and immunodeficiency. Hematopoietic stem cell transplantation has cured the immune abnormalities in one TRIANGLE patient, although the neurodevelopmental delay would likely remain. Investigators at the National Institute of Allergy and Infectious Diseases at the US National Institutes of Health currently have clinical protocols to study new approaches to the diagnosis and treatment of this disorder.

There is currently no treatment for CHILD syndrome so any treatment would target the symptoms currently present. Emoillents like Lac-Hydran (ammonium lactate) and Ureaphil (urea) are used to treat scaly patches on the skin. A pediatric orthopedic surgeon can evaluate any underdevelopment in the bones and treat them if necessary.

There is a compound that is a topical liquid that can calm lesions down on older adults and make them go away on younger children. The mixture was made by Dr. Amy Paller at Children's Hospital. It is mixed as follows: to make 250 ml: Grind up lovastatin tablets 5g (10-20-40-80 mg); mix with cholesterol NF powder (NDC# 51927-1203-00, PCCA) 5g; mix with preserved water while mixing (eventually mixing for 1/2 hour with electronic mortar and pestle) to bring to full volume with preserved water. 8 oz

There is no broadly accepted standard of care for infants with DG. Some healthcare providers recommend partial to complete dietary restriction of milk and other high galactose foods for infants or young children with DG; others do not. Because children with DG develop increased tolerance for dietary galactose as they grow, few healthcare providers recommend dietary restriction of lactose or galactose beyond early childhood.

The rationale for NOT restricting dietary galactose exposure of infants and/or young children with DG: Healthcare providers who do not recommend dietary restriction of galactose for infants with DG generally consider DG to be of no clinical significance—meaning most infants and children with DG seem to be doing clinically well. Further, these providers may be opposed to interrupting or reducing breastfeeding when there is no clear evidence it is contraindicated. These providers may argue that the recognized health benefits of breastfeeding outweigh the potential risks of as yet unknown negative effects of continued milk exposure for these infants. For infants with DG who continue to drink milk, some doctors would recommend that blood galactose-1-phosphate (Gal-1P) or urinary galactitol be rechecked by age 12 months to ensure that these metabolite levels are normalizing.

The rationale FOR restricting dietary galactose exposure of infants and/or young children with DG: Healthcare providers who recommend partial or complete dietary restriction of galactose for infants and/or young children with DG generally cite concern about the unknown long-term consequences of abnormally elevated galactose metabolites in a young child's blood and tissues. Infants with DG who continue to drink milk accumulate the same set of abnormal galactose metabolites seen in babies with classic galactosemia – e.g. galactose, Gal-1P, galactonate, and galactitol – but to a lesser extent. While it remains unclear whether any of these metabolites contribute to the long-term developmental complications experienced by so many older children with classic galactosemia, the possibility that they might cause problems serves to motivate some healthcare providers to recommend dietary galactose restriction for infants with DG. Switching an infant with DG from milk or milk formula (high galactose) to soy formula (low galactose) rapidly normalizes their galactose metabolites. This approach is considered potentially preventative rather than responsive to acute symptoms.

If dietary galactose restriction of any kind is followed, healthcare providers may recommend that the child have a galactose challenge to re-evaluate galactose tolerance before the restrictive diet is discontinued. Most infants or young children with DG who are followed by a metabolic specialist are discharged from follow up after a successful galactose challenge.Options for those choosing to restrict dietary galactose in infancy and/or early childhood: Dietary restriction practices for Duarte galactosemia vary widely. In the US, some healthcare providers recommend full dietary restriction of milk and all dairy products for the first 12 months of life, followed by a galactose challenge. Some providers recommend the galactose challenge before 12 months, others after. Some providers who recommend dietary intervention suggest a "compromise approach" if the parent wishes to breastfeed, such that the parent alternates feedings of breast milk and low galactose formula. Finally, some parents choose to continue some form of dietary galactose restriction for their child with DG beyond early childhood.

What is a galactose challenge? The goal of a galactose challenge is to learn whether a child is able to metabolize dietary galactose sufficiently to prevent the abnormal accumulation of galactose metabolites, generally measured as Gal-1P in the blood. For infants with DG who showed elevated galactose metabolites at diagnosis, this test can be used to see if their ability to process galactose has improved enough to discontinue dietary galactose restriction.

To test galactose metabolism, a baseline Gal-1P level is measured while the child is on a galactose-restricted diet. If the level is within the normal range (e.g. <1.0 mg/dL), the parent/guardian is advised to "challenge" the child with dietary galactose—meaning feed the child a diet that includes normal levels of milk for 2–4 weeks. Immediately after that time, another blood sample is collected and analyzed for Gal-1P level. If this second result is still in the normal range, the child is said to have "passed" their galactose challenge, and dietary galactose restrictions are typically relaxed or discontinued. If the second test shows elevated Gal-1P levels, the parent/guardian may be advised to resume galactose restriction for the child, and the "challenge" may be repeated after a few months.

Chronic pain is treated with a variety of medications and non-pharmacological interventions. Opioid tolerance and withdrawal can be seen in the NICU and PICU. Other side effects with opioid use can be: cognition deficits, altered mood, and disturbances of endocrine development. Opioid misuse can occur in adolescents and is associated with the use of alcohol, cigarettes and marijuana.

Non-pharmacological treatment for children in helping to relieve periodic pain episodes and severity includes counselling and behavior modification therapy. The American Association of Pediatrics have suggested that parents be educated on providing round the clock medication administration after their children receive surgery.

Avoiding allergens will help prevent symptoms. Allergies that a child has to the family pet can be controlled by removing the animal and finding it a new home. Exterminating cockroaches, mice and rats and a thorough cleaning can reduce symptoms of an allergy in children. Dust mites are attracted to moisture. They consume human skin that has come off and lodged in, furniture, rugs, mattresses, box springs, and pillows. The child's bedding can be covered with allergen-proof covers. Laundering of the child's clothing, bed linens and blankets will also reduce exposure.

Exposure to allergens outside the home can be controlled with the use of air conditioners. Washing the hair, taking a bath or shower before bedtime can be done to remove allergens that have been picked up from outside the home. If grass or grass pollen is an allergen it is sometimes beneficial to remain indoors while grass is being cut or mowed. Children with allergies to grass can avoid playing in the grass to prevent allergic symptoms. Staying out of piled leaves in the fall can help. Pets returning into the home after being outdoors may track in allergens.

The use of medications to treat acute, chronic, recurrent and neuropathic pain is most common. Most instances of pain in children are treated with analgesics. These include acetaminophen, NSAIDs, local anesthetics, opioids, and medications for neuropathic pain. The most effective approach to pain management in children is to provide medicine around the clock instead of providing pain relief as needed. Regional anesthesia is also effective and recommended whenever possible. Opioids are effective too but often depress breathing in infants.

In order to avoid problems, the person must be rehabilitated with small but frequent rations, given every two to four hours. During one week, the diet, hyperglucidic, is gradually enriched in protein as well as essential elements: sweet milk with mineral salts and vitamins. The diet may include lactases - so that children who have developed lactose intolerance can ingest dairy products - and antibiotics - to compensate for immunodeficiency. After two to three weeks, the milk is replaced by boiled cereals fortified with minerals and vitamins until its mass is at least 80% of normal weight. Traditional food can then be reintroduced. The child is considered healed when his mass reaches 85% of normal.

Due to the fact that PRS is such a severe disorder, it is almost always required to hospitalize in a child and adolescent psychiatric unit. Outpatient treatment does display symptom-free periods, but relapses of short-lived episodes of depressive symptoms or anorexia are observed. It is therefore necessary to partake in inpatient treatment. Treatment ought to involve gentle loving care. The person treating the patient must be very sensitive and tolerant because it takes a long period of time for the patient to get better, and putting pressure on them adds severity to their condition. It frequently takes several months of treatment before it is likely to employ a very steady rehabilitation programme.

Currently Sandhoff disease does not have any standard treatment and does not have a cure. However, a person suffering from the disease needs proper nutrition, hydration, and maintenance of clear airways. To reduce some symptoms that may occur with Sandhoff disease, the patient may take anticonvulsants to manage seizures or medications to treat respiratory infections, and consume a precise diet consisting of puree foods due to difficulties swallowing. Infants with the disease usually die by the age of 3 due to respiratory infections. The patient must be under constant surveillance because they can suffer from aspiration or lack the ability to change from the passageway to their lungs versus their stomach and their spit travels to the lungs causing bronchopneumonia. The patient also lacks the ability to cough and therefore must undergo a treatment to shake up their body to remove the mucus from the lining of their lungs. Medication is also given to patients to lessen their symptoms including seizures.

Currently the government is testing several treatments including N-butyl-deoxynojirimycin in mice, as well as stem cell treatment in humans and other medical treatments recruiting test patients.

The role of the family in the treatment process is vital yet complicated, given that withdrawal of the child from therapy is a key problem. It is important to include the family of the patient in the treatment process as it eases family anxiety and distress. Nonetheless, it is important to create some space because too much involvement of the family may be counterproductive. Medication seems to play a very restricted part in the management of pervasive refusal syndrome (PRS), having importance in the treatment of comorbid disorders only, for example antidepressants for comorbid depression.

Simple behavioral methods are recommended as initial treatment. Enuresis alarm therapy and medications may be more effective but have potential side effects.

- Motivational therapy in nocturnal enuresis mainly involves parent and child education. Guilt should be allayed by providing facts. Fluids should be restricted 2 hours prior to bed. The child should be encouraged to empty the bladder completely prior to going to bed. Positive reinforcement can be initiated by setting up a diary or chart to monitor progress and establishing a system to reward the child for each night that he or she is dry. The child should participate in morning cleanup as a natural, nonpunitive consequence of wetting. This method is particularly helpful in younger children (<8 years) and will achieve dryness in 15-20% of the patients.

- Waiting: Almost all children will outgrow bedwetting. For this reason, urologists and pediatricians frequently recommend delaying treatment until the child is at least six or seven years old. Physicians may begin treatment earlier if they perceive the condition is damaging the child's self-esteem and/or relationships with family/friends.

- Bedwetting alarms: Physicians also frequently suggest bedwetting alarms which sound a loud tone when they sense moisture. This can help condition the child to wake at the sensation of a full bladder. These alarms are considered effective, with study participants being 13 times more likely to become dry at night. There is a 29% to 69% relapse rate, however, so the treatment may need to be repeated.

- DDAVP (desmopressin) tablets are a synthetic replacement for antidiuretic hormone, the hormone that reduces urine production during sleep. Desmopressin is usually used in the form of desmopressin acetate, DDAVP. Patients taking DDAVP are 4.5 times more likely to stay dry than those taking a placebo. The drug replaces the hormone for that night with no cumulative effect. US drug regulators have banned using desmopressin nasal sprays for treating bedwetting since the oral form is considered safer.

- DDAVP is most efficient in children with nocturnal polyuria (nocturnal urine production greater than 130% of expected bladder capacity for age) and normal bladder reservoir function (maximum voided volume greater than 70% of expected bladder capacity for age). Other children who are likely candidates for desmopressin treatment are those in whom alarm therapy has failed or those considered unlikely to comply with alarm therapy. It can be very useful for summer camp and sleepovers to prevent enuresis.

- Tricyclic antidepressants: Tricyclic antidepressant prescription drugs with anti-muscarinic properties have been proven successful in treating bedwetting, but also have an increased risk of side effects, including death from overdose. These drugs include amitriptyline, imipramine and nortriptyline. Studies find that patients using these drugs are 4.2 times as likely to stay dry as those taking a placebo. The relapse rates after stopping the medicines are close to 50%.

Usually no treatment is needed. Folic acid supplementation may help produce normal red blood cells and improve the symptoms of anemia

Infants and children who have had unpleasant eating experiences (e.g. acid reflux or food intolerance) may be reluctant to eat their meals. Additionally, force feeding an infant or child can discourage proper self-feeding practices and in-turn cause undue stress on both the child and their parents. Psychosocial interventions can be targeted at encouraging the child to feed themselves during meals. Also, making mealtimes a positive, enjoyable experience through the use of positive reinforcement may improve eating habits in children who present with FTT. If behavioural issues persist and are affecting nutritional habits in children with FTT it is recommended that the child see a psychologist.

Most children with symbrachydactyly have excellent function in daily activities. Due to the length of their arm, they do not qualify for most artificial limbs. However, some adaptive prosthetics and equipment for sports and leisure activities may be helpful when the child is older. Children who demonstrate some functional movement in their remaining fingers and within the palm are evaluated for possible surgery such as toe transfers.

There is no quick cure, and treatment will be based on what problems may be causing the feeding disorder. Depending on the condition, the following steps can be taken: increasing the number of foods that are accepted, increasing the amount of calories and the amount of fluids; checks for vitamin or mineral deficiencies; finding out what the illnesses or psychosocial problems are. To accomplish these goals patients may have to be hospitalized for extensive periods of time. Treatment involves professionals from multiple fields of study including, but not limited to; behavior analysts (Behavioral interventions), occupational and speech therapist who specialize in feeding disorders, dietitians, psychologists and physician. To obtain the best results, treatment should include a behavior modification plan under the guidance of multiple professionals. If the child has oral motor difficulties related to the feeding disorder a pediatric occupational or speech therapist who is trained in feeding disorders and oral motor function should help develop a plan.

The goal of antiretroviral use during pregnancy is to reduce the risk of transmission of HIV from mother to child. It is important to choose medications that are safe for the mother and the fetus and which are effective at decreasing the total viral load. Some studies have shown an increase in stillbirths, preterm delivery, and delayed fetal growth in women using high doses of antiretroviral drugs during pregnancy. However, the overall benefits of ART are believed to outweigh the risks and all women are encouraged to use ART for the duration of their pregnancy.

Due to physiological changes in the body during pregnancy, it may be necessary to alter the dosing of medications so that they remain effective. Generally, the dose or the frequency of dosing are increased to account for these changes.

The recommended ART regimen for HIV-positive pregnant women consists of drugs from 4 different classes of medications listed below. In the United States, the favored regimen is a three-drug regimen where the first two drugs are NRTIs and the third is either a protease inhibitor, an integrase inhibitor, or an NNRTI.

- Nucleoside reverse transcriptase inhibitors (NRTIs) are considered the "backbone" of ART and 2 medications are generally used in combination. Due to its known safety profile and extensive use in pregnant patients, zidovudine-lamivudine (ZDV/3TC) is the preferred choice as the NRTI backbone. Zidovudine may worsen anemia, so patients with anemia are advised to use an alternative agent. For women who are coinfected with Hepatitis B, tenofovir with either emtricitabine or lamivudine is the preferred NRTI backbone. NRTI use may cause lactic acidosis in some women, so it is important to monitor patients for this complication. Deaths from lactic acidosis and liver failure have been associated with the use of two NRTIs, stavudine and didanosine (Zerit and Videx, respectively); therefore, combinations involving these drugs should be avoided in pregnancy.

- Protease inhibitors (PIs) have been studied extensively in pregnancy and are therefore the preferred third drug in the regimen. Atazanavir-ritonavir and darunavir-ritonavir are two of the most common PIs used during pregnancy. There is conflicting data regarding their association with preterm births, so women who are at a high risk for premature delivery are advised not to use PIs. Some PIs have been associated with hyperglycemia but is unclear whether they add to the risk of developing gestational diabetes. Some PIs have been noted to cause hyperbilirubinemia and nausea, so these side effects should be monitored for closely.

- Integrase inhibitors (IIs) are generally the third drug in the regimen when a PI cannot be used. They rapidly reduce the viral load and for this reason, they are often used in women who are diagnosed with HIV late in the pregnancy. Raltegravir is the most common II used.

- Non-nucleoside reverse transcriptase inhibitors (NNRTIs), the most popular being efavirenz and nevirapine, may be used during pregnancy. However, there are significant toxicities associated with their use, making them a less desirable option.

- Efavirenz (brand name Sustiva, and a component of the combination drug Atripla) is classified as a category D drug by the US Food and Drug Administration indicating there are risks associated with its use during pregnancy. In a study analyzing the use of the drug in pregnant women, 2.3% of births were associated with birth defects. However, a systematic review of the safety of efavirenz use in humans during the first trimester found no increase in birth defects among women using the drug. Given the uncertain potential for risk the U.S. DHHS recommends against using efavirenz in the first trimester of pregnancy or in women who may become pregnant. They instead recommend a protease inhibitor based regimen with lopinavir or atazanavir. However, to simplify regimens and provide a uniform recommendation for HIV-infected individuals during pregnancy, the WHO continues to recommend efavirenz as a first line agent for HIV positive women. Women using efavirenz prior to their pregnancy may continue with the drug as it is more dangerous to stop or change medications during pregnancy because this can result in improper control of the viral load.

- Nevirapine (trade name Viramune) increases the risk of very serious liver damage in women with CD4 counts greater than 250 cells/mm . It is generally avoided in pregnant women. Women taking nevirapine safely prior to pregnancy may continue with the medication because nevirapine-related liver damage has not been seen in women previously using the medication.

Disorders usually resolve after early treatment. If the treatment is delayed, the overall health of the child is improved but physical (reduced) and intellectual (mental disabilities) sequelae are feared. Without treatment or if treatment occurs too late, death is inevitable.

A high risk of death is identified by a brachial perimeter < 11 cm or by a weight-to-height threshold < -3 SD. In practice, malnourished children with edema are suffering from potentially life-threatening severe malnutrition.

Whether blindness is treatable depends upon the cause. Surgical intervention can be performed in PCG which is childhood glaucoma, usually starting early in childhood. Primary congenital glaucoma is caused by an abnormal drainage of the eye. However, surgical intervention is yet to prove effective.

Once ketotic hypoglycemia is suspected and other conditions excluded, appropriate treatment reduces the frequency and duration of episodes. Extended fasts should be avoided. The child should be given a bedtime snack of carbohydrates (e.g. spaghetti or pasta or milk) and should be awakened and fed after the usual duration of sleep. If the child is underweight, a daily nutritional supplement may be recommended. Raw cornstarch dissolved in a beverage helps individuals with hypoglycemia, especially that caused by Glycogen Storage Disease, sustain their blood sugars for longer periods of time and may be given at bedtime.

If a spell begins, carbohydrates and fluids should be given promptly. If vomiting prevents this, the child should be taken to the local emergency department for a few hours of intravenous saline and dextrose. This treatment is often expedited by supplying the parents with a letter describing the condition and recommended treatment.

Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.It is also known as "Jeune syndrome".

It was described in 1955.

There is no treatment at this time to promote bone growth in chondrodystrophy patients. Certain types of growth hormone seem to increase the rate of growth during the first year of life/treatment, but have no substantial effect in adult patients. Only a few surgical centers in the world perform, experimentally, leg and arm lengthening procedures. Most common therapies are found in seeking help from: family physicians, pediatrics, internists, endocrinologists, geneticists, orthopedists and neurologists.

The goal of treatment in Panner disease is to relieve pain. Treatment for Panner Disease is very minimal because in most children the bones repair their blood supply and rebuild themselves and this leads to the rebuilding of the growth plate and the capitellum returns to its normal shape. The period of rebuilding and regrowth varies from child to child and can last anywhere between weeks to several months. To relieve the pain, the child is restricted from participating in sports and activities until the elbow is healed and to also rest the affected elbow. Rest will allow for the pain to be relieved and return of full elbow movement. It may also be recommended for children to apply an icepack or heat to the elbow to alleviate pain and swelling. If the child has great difficulty bending and straightening the arm then physical therapy may also be recommend. Occasionally, it is recommended for children to use nonsteroidal anti-inflammatory drugs (NSAIDs) or acetaminophen to also reduce pain and swelling. For treatment, Panner Disease heals well in children with rest and restriction of physical activity and sports using the affected arm. The prognosis is also good with treatment and the affected capitellum is remodeled. Irregularities of the capitellum and surrounding elbow area can both be seen by radiograph and MRI. When treatment is effective the flattened and fragmented capitellum is completely remodeled and returns to its normal circular shape, and also the high intensity signal on a MRI T2 series disappears. These results indicate that the capitellum is completely remodeled and the child is able to return to normal physical and sports activities.

TRIANGLE disease is a rare genetic disorder of the immune system. TRIANGLE stands for “TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion” where "TPP2" is the causative gene. This disease manifests as recurrent infection, autoimmunity, and neurodevelopmental delay. TRIANGLE disease was first described in a collaborative study by Dr. Helen C. Su from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, and Dr. Sophie Hambleton from the University of Newcastle and their collaborators in 2014. The disease was also described by the group of Ehl et al.

Treatment involves monitoring intracranial pressure (the pressure within the skull), draining fluid from the cerebral ventricles, and, if an intracranial hematoma is present, draining the blood collection.

Genetic counseling may be appropriate for high-risk couples who wish to have a baby.