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

It was described in 1955.

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.

Because CHILD syndrome is a congenital disorder, the symptoms may be present at birth or may develop during the first few weeks of life and continue for the lifetime of the patient.

Very little is known about outcomes in DG after early childhood. This is because many infants with DG are born in states where they are not diagnosed by NBS, and of those who are diagnosed, most are discharged from metabolic follow-up as toddlers.

Because it is unclear whether DG has any long-term developmental impacts, or if diet modification would prevent or resolve any issues that may result from DG, any developmental or psychosocial problems experienced by a person with DG should be treated symptomatically and the possibility of other causes should be explored.

Of note, premature ovarian insufficiency, a common outcome among girls and women with classic galactosemia, has been checked by hormone studies and does not appear to occur at high prevalence among girls with DG.

Prior Research Concerning Developmental Outcomes of Children with DG: Three

studies of developmental outcomes of children with DG have been published.

- The first looked at biochemical markers and developmental outcomes in a group of 28 toddlers and young children with DG, some of whom had drunk milk through infancy and some of whom had drunk soy formula. The authors found that galactose metabolites were significantly elevated in the infants drinking milk over those drinking soy. However, all of the children scored within normal limits on standardized tests of child development.

- A second study of developmental outcomes in DG looked at 3 to 10 year olds living in a large metropolitan area and asked whether children diagnosed as newborns with DG in this group were more likely than their unaffected peers to receive special educational services later in childhood. The answer was yes. Specifically, children with DG in this group were significantly more likely than other children to receive a diagnosis of, or special educational services for, a speech/language disorder.

- The final study reported that addressed developmental outcomes in DG was a pilot study involving direct assessments of 15 children, all ages 6–11 years old; 15 had DG and 5 did not. Children in the DG group showed slower auditory processing than did the control group. The DG group also showed some slight differences in auditory memory, receptive language/ listening skills, social-emotional functioning, and balance and fine motor coordination.

Combined,

these studies "suggest" that school age

children with DG "might" be at

increased risk for specific developmental difficulties compared with controls. All

of the relevant studies were limited, however, leaving the question of whether

children with DG are truly at increased risk for developmental difficulties

unresolved. Current reports also leave open the question of whether dietary

exposure to milk in infancy associates with developmental outcomes in DG. More

research is needed to answer these questions.

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.

Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop. It begins before the child is born. Jeune syndrome affects the child's rib cage, pelvis, arms and legs.

Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome. Their rib cages (thorax) are smaller and narrower than usual. This can keep the child's lungs from developing fully or expanding when the child inhales. The child may breathe rapidly and shallowly. They may have trouble breathing when they have an upper or lower respiratory infection, like pneumonia.

Breathing trouble can range from mild to severe. In some children, it is not noticeable, aside from fast breathing. In most children, breathing problems are serious. About 60% to 70% of children with this condition die from respiratory failure as babies or young children.

Children with Jeune syndrome who survive often develop problems with their kidneys, another serious feature of Jeune syndrome. Over time they may experience renal failure.

As a result, few children with Jeune syndrome live into their teen years.

Children with Jeune syndrome have a form of dwarfism. They are short in stature, and their arms and legs are shorter than most people’s.

Another name for Jeune syndrome is asphyxiating thoracic dystrophy. This diagnosis is grouped with other chest problems called thoracic insufficiency syndrome (TIS).

The prevalence of DG in the United States (US) can only be estimated because there is no true population surveillance for this condition. Differences in NBS methods result in very different detection rates for DG in different states. For example, in some US states, DG is detected by NBS in up to 1 in 3500 infants screened, while in other states it is essentially not detected. DG prevalence in the US Caucasian population is estimated to be approximately 1 in 4,000, which is nearly 10 times the prevalence of classic galactosemia.

CHILD syndrome is not fatal unless there are problems with the internal organs. The most common causes of early death in people with the syndrome are cardiovascular malformations. However, central nervous system, skeletal, kidney, lung, and other visceral defects also contribute significantly.

A child's allergy is an immune system reaction. The child is reacting to a specific substance, or allergen. The immune system of a child responds to the invading allergen by releasing histamine and other chemicals that typically trigger symptoms in the nose, lungs, throat, sinuses, ears, eyes, skin, or stomach lining. In some children, allergies can also trigger symptoms of asthma—a disease that causes wheezing or difficulty breathing. If a child has allergies and asthma, controlling the allergies is important because the lack of treatment may make the allergies worse. Compounds such as phthalates are associated with asthma in children. Asthma in children is associated with exposure to indoor allergens. in early childhood may prevent the development of asthma, but exposure at an older age may provoke bronchoconstriction. Use of antibiotics in early life has been linked to the development of asthma. Exposure to indoor volatile organic compounds may be a trigger for asthma; formaldehyde exposure, for example, has a positive association.

Each home contains possible allergens that can develop into allergies after exposure to:

- Dust mites

- Dogs and cats

- Other furry pets

- Cockroaches

- Mice and rats)

- Plants

- Mold

Vitamin D deficiency at the time of birth and exposure to egg white, milk, peanut, walnut, soy, shrimp, cod fish, and wheat makes a child more susceptible to allergies. Soy-based infant formula is associated with allergies in infants.

Pervasive refusal syndrome is for the most part frequently seen in girls and less so in boys. The average age of onset is between the ages of 7 and 15. Affected children are usually high achievers with high self-expectations, fears of failure, and difficulty dealing with failure to achieve personal standards. The onset of PRS is usually acute.

Gestational problems affecting both mother and fetus, the birthing process, prematurity and nutritional deficits can accelerate skeletal and hemorrhagic pathologies that can also mimic SBS, even before birth.

Small children are at particularly high risk for the abuse that causes SBS given the large difference in size between the small child and an adult. SBS usually occurs in children under the age of two but may occur in those up to age five.

Traditionally, causes of FTT have been divided into endogenous and exogenous causes. These causes can be largely grouped into three categories: inadequate caloric intake, inadequate nutrient absorption, and increased metabolism. Initial investigation should consider physical causes, calorie intake, and psychosocial assessment.

- Endogenous (or "organic"): Causes are due to physical or mental issues with the child itself. It can include various inborn errors of metabolism. Problems with the gastrointestinal system such as gas and acid reflux, are painful conditions which may make the child unwilling to take in sufficient nutrition. Cystic fibrosis, diarrhea, liver disease, anemia or iron deficiency, and coeliac disease make it more difficult for the body to absorb nutrition. Other causes include physical deformities such as cleft palate and tongue tie. Milk allergies can cause endogenous FTT. Also the metabolism may be raised by parasites, asthma, urinary tract infections, and other fever-inducing infections, hyperthyroidism or congenital heart disease so that it becomes difficult to get in sufficient calories to meet the higher caloric demands.

- Exogenous (or "nonorganic"): Caused by caregiver's actions. Examples include physical inability to produce enough breastmilk, using only babies' cues to regulate breastfeeding so as to not offer a sufficient number of feeds (sleepy baby syndrome), inability to procure formula when needed, purposely limiting total caloric intake (often for what the caregiver views as a more aesthetically pleasing child), and not offering sufficient age-appropriate solid foods for babies and toddlers over the age of six months . A recent study on toddlers with exogenous FTT has found preliminary evidence suggesting that difficulty experienced during feeding times with this condition may in fact be impacted by preexisting sensory processing problems. Such difficulties with sensory processing are more commonly observed in toddlers who have a history of growth deficiency and feeding problems; however, further research is required in order to determine a causal relationship between sensory processing problems and nonorganic FTT. In developing countries, conflict settings and protracted emergencies, exogenous faltering may be caused by chronic food insecurity, lack of nutritional awareness, and other factors beyond the caregiver's control.

- Mixed: However, to think of the terms as dichotomous can be misleading, since both endogenous and exogenous factors may co-exist. For instance a child who is not getting sufficient nutrition may act content so that caregivers do not offer feedings of sufficient frequency or volume, and a child with severe acid reflux who appears to be in pain while eating may make a caregiver hesitant to offer sufficient feedings.

Some 25% to 40% of young children are reported to have feeding problems—mainly colic, vomiting, slow feeding, and refusal to eat. It has been reported that up to 80% of infants with developmental handicaps also demonstrate feeding problems while 1 to 2% of infants aged less than one year show severe food refusal and poor growth. Among infants born prematurely, 40% to 70% experience some form of feeding problem.

Most healthy people working with infants and children face no special risk from CMV infection. However, for women of child-bearing age who previously have not been infected with CMV, there is a potential risk to the developing unborn child (the risk is described above in the Pregnancy section). Contact with children who are in day care, where CMV infection is commonly transmitted among young children (particularly toddlers), may be a source of exposure to CMV. Since CMV is transmitted through contact with infected body fluids, including urine and saliva, child care providers (meaning day care workers, special education teachers, as well as mothers) should be educated about the risks of CMV infection and the precautions they can take. Day care workers appear to be at a greater risk than hospital and other health care providers, and this may be due in part to the increased emphasis on personal hygiene in the health care setting.

Recommendations for individuals providing care for infants and children:

- Employees should be educated concerning CMV, its transmission, and hygienic practices, such as handwashing, which minimize the risk of infection.

- Susceptible nonpregnant women working with infants and children should not routinely be transferred to other work situations.

- Pregnant women working with infants and children should be informed of the risk of acquiring CMV infection and the possible effects on the unborn child.

- Routine laboratory testing for CMV antibody in female workers is not specifically recommended due to its high occurrence, but can be performed to determine their immune status.

Worldwide, approximately 1 in 100 to 500 babies are born with congenital CMV. Approximately 1 in 3000 will show symptoms and 1 in 7000 will die.

Congenital HCMV infection occurs when the mother suffers a primary infection (or reactivation) during pregnancy. Due to the lower seroprevalence of HCMV in industrialized countries and higher socioeconomic groups, congenital infections are actually less common in poorer communities, where more women of child-bearing age are already seropositive. In industrialized countries up to 8% of HCMV seronegative mothers contract primary HCMV infection during pregnancy, of which roughly 50% will transmit to the fetus. Between 22–38% of infected fetuses are then born with symptoms, which may include pneumonia, gastrointestinal, retinal and neurological disease. HCMV infection occurs in roughly 1% of all neonates with those who are not congenitally infected contracting the infection possibly through breast milk. Other sources of neonatal infection are bodily fluids which are known to contain high titres in shedding individuals: saliva (<10copies/ml) and urine (<10copies/ml ) seem common routes of transmission.

The incidence of primary CMV infection in pregnant women in the United States varies from 1% to 3%. Healthy pregnant women are not at special risk for disease from CMV infection. When infected with CMV, most women have no symptoms and very few have a disease resembling infectious mononucleosis. It is their developing fetuses that may be at risk for congenital CMV disease. CMV remains the most important cause of congenital viral infection in the United States. HCMV is the most common cause of congenital infection in humans and intrauterine primary infections are more common than other well-known infections and syndromes, including Down Syndrome, Fetal Alcohol Syndrome, Spina Bifida, and Pediatric HIV/AIDS.

Poor maternal nutrition during pregnancy and breastfeeding can lead to stunted growth of their children. Women who are underweight or anemic during pregnancy, are more likely to have stunted children which perpetuates the inter-generational transmission of stunting.

There is most likely a link between children's linear growth and household sanitation practices. The ingestion of high quantities of fecal bacteria by young children through putting soiled fingers or household items in the mouth leads to intestinal infections. This affect children's nutritional status by diminishing appetite, reducing nutrient absorption, and increasing nutrient losses.

The diseases recurrent diarrhoea and intestinal worm infections (helminthiasis) which are both linked to poor sanitation have been shown to contribute to child stunting. The evidence that a condition called environmental enteropathy also stunts children is not conclusively available yet, although the link is plausible and several studies are underway on this topic. Environmental enteropathy is a syndrome causing changes in the small intestine of persons and can be brought on due to lacking basic sanitary facilities and being exposed to faecal contamination on a long-term basis.

Research on a global level has found that the proportion of stunting that could be attributed to five or more episodes of diarrhoea before two years of age was 25%. Since diarrhoea is closely linked with water, sanitation and hygiene (WASH), this is a good indicator for the connection between WASH and stunted growth. To what extent improvements in drinking water safety, toilet use and good handwashing practices contribute to reduce stunting depends on the how bad these practices were prior to interventions.

The causes of pain children are similar to causes of pain in adults.

Pain can be experienced in many ways and is dependent upon the following factors in each child:

- prior painful episodes or treatments

- age and developmental stage

- disease or type of trauma

- personality

- culture

- socioeconomic status

- presence of family members and family dynamics.

Cancer pain can differ from other types of pain. The level of pain experienced by a child that has this disease is related to the stage or extent of the cancer. Children with cancer may have no pain at all, it varies. One child may have a different threshold for pain than another may.

Sources of cancer pain are:

- a growing tumor pressing on a body organ or nerves

- inadequate blood circulation because of blocked blood vessels

- blockage of an organ or a 'tube' of the organ

- the spread of the cancer to other places

- infection

- inflammation

- side effects of chemotherapy, radiation treatment or surgery

- inactivity and stiffness

- depression and anxiety

Pregnant women with HIV may still receive the trivalent inactivated influenza vaccine and the tetanus, diphtheria, and pertussis (Tdap) vaccination during pregnancy.

Many patients who are HIV positive also have other health conditions known as comorbidities. Hepatitis B, hepatitis C, tuberculosis and injection drug use are some of the most common comorbidities associated with HIV. Women who screen positive for HIV should also be tested for these conditions so that they may be adequately treated or controlled during the pregnancy. The comorbidities may have serious adverse effects on the mother and child during pregnancy, so it is extremely important to identify them early during the pregnancy.

Hemoglobin C gene is found in 2-3% of US African-Americans while 8% of US African \-Americans have hemoglobin S (Sickle) gene. Thus Hemoglobin SC disease is significantly more common than Hemoglobin CC disease. Hemoglobin C is found in areas of West Africa, such as Nigeria, where Yorubas live.

About 1 out of every 40 African-Americans has hemoglobin C trait. The trait also affects people whose ancestors came from Italy, Greece, Africa, Latin America, and the Caribbean region. However, it is possible for a person of any race or nationality to have hemoglobin C trait. In terms of geographic distribution, the hemoglobin C allele is found at the highest frequencies in West Africa, where it has been associated with protection against malaria. Hemoglobin C disease is present at birth, though some cases may not be diagnosed until adulthood. Both sexes, male and female, are affected equally.

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 girls can stay dry at night by age six and most boys stay dry by age seven. Boys are three times more likely to wet the bed than girls.

Doctors frequently consider bedwetting as a self-limiting problem, since most children will outgrow it. Children 5 to 9 years old have a spontaneous cure rate of 14% per year. Adolescents 10 to 18 years old have a spontaneous cure rate of 16% per year.

Approximate bedwetting rates are:

- Age 5: 20%

- Age 6: 10–15%

- Age 7: 7%

- Age 10: 5%

- Age 15: 1–2%

- Age 18–64: 0.5–1%

As can be seen from the numbers above, a portion of bedwetting children will not outgrow the problem. Adult rates of bedwetting show little change due to spontaneous cure. Persons who are still enuretic at age 18 are likely to deal with bedwetting throughout their lives.

Studies of bedwetting in adults have found varying rates. The most quoted study in this area was done in the Netherlands. It found a 0.5% rate for 18- to 64-year-olds. A Hong Kong study, however, found a much higher rate. The Hong Kong researchers found a bedwetting rate of 2.3% in 16- to 40-year-olds.