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).

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.

Clinically, TRIANGLE disease is characterized combined immunodeficiency, severe autoimmunity, and developmental delay. Patients typically present in early childhood with recurrent bacterial and viral infections of the middle ear and respiratory tract. Additionally, patients develop severe, difficult to treat autoimmunity. This autoimmunity includes auto-antibody mediated destruction of red blood cells, neutrophils, and platelets; central nervous system lupus erythematous with stroke; and hepatitis. Patients also have mild to moderate developmental delay.

The acronym CHILD stands for the symptoms of the syndrome:

- CH = Congenital Hemidysplasia—One side of the body, most of the time the right side, is poorly developed. The right ribs, neck, vertebrae, etc. may be underdeveloped and the internal organs may be affected.

- I - Ichthyosiform Erythroderma—At birth or shortly after birth, there are red, inflamed patches (erythroderma), and flaky scales (ichthyosis) on the side of the body that is affected. Hair loss on the same side may also be possible.

- LD - limb defects—Fingers on the hand or toes on the foot of the affected side may be missing. An arm or leg may also be shortened or even missing.

The signs and symptoms of allergies in a child are:

- Chronic symptoms resembling the cold that last more than a week or two.

- Cold-like symptoms that appear during the same time each year

- Repeated difficulty breathing, wheezing and breathing

- Cold-like symptoms that happen at night

- Cold-like symptoms that happen during exercise

- Chronic rashes or patches of skin that are dry, itchy, look like scales

- Cold-like symptoms that appear after eating a certain food

- Hives

- Swelling of face, arms or legs

- Gagging, coughing or wheezing, vomiting or significant abdominal pain

- Itching or tingling sensations in the mouth, throat or ears

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement.

The acronym was introduced in 1980.

Recurrent pain is pain that arises periodically and can result in absences from school, outside activities, etc. This type of pain may be the most common.

Descriptions are:

- periodic instead of persistent

- consisting of tension and migraine headaches

- abdominal pains

- chest pain and limb pains

Duarte galactosemia (also known as Duarte variant galactosemia, DG, or biochemical variant galactosemia) is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. Duarte galactosemia (DG) is estimated to affect close to one in 4,000 infants born in the United States. DG Is considered by most healthcare professionals to be clinically mild. It differs from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete, or almost complete, GALT deficiency.

DG, and the possible outcomes associated with this condition, are currently not well understood. Due to regional variations in newborn screening (NBS) protocols, some infants with DG are identified by NBS but others are not. In addition, of the infants who are diagnosed, most are clinically healthy as babies and toddlers, resulting in early discharge from follow up. Many healthcare professionals believe that DG does not negatively impact development. However, some reports have indicated that children with DG may be at increased risk for some developmental problems.

Sandhoff disease symptoms are clinically indeterminable from Tay–Sachs disease. The classic infantile form of the disease has the most severe symptoms and is incredibly hard to diagnose at this early age. The first signs of symptoms begin before 6 months of age and the parents’ notice when the child begins regressing in their development. If the children had the ability to sit up by themselves or crawl they will lose this ability. This is caused by a slow deterioration of the muscles in the child’s body from the buildup of GM2 gangliosides. Since the body is unable to create the enzymes it needs within the central nervous system it is unable to attach to these gangliosides to break them apart and make them non-toxic. With this buildup there are several symptoms that begin to appear such as muscle/motor weakness, sharp reaction to loud noises, blindness, deafness, inability to react to stimulants, respiratory problems and infections, mental retardation, seizures, cherry red spots in the retina, enlarged liver and spleen (hepatosplenomegaly), pneumonia, or bronchopneumonia.

The other two forms of Sandhoff disease have similar symptoms but to a lesser extent. Adult and juvenile forms of Sandhoff disease are more rare than the infantile form. In these cases victims suffer cognitive impairment (retardation) and a loss of muscle coordination that impairs and eventually destroys their ability to walk; the characteristic red spots in the retina also develop. The adult form of the disease, however, is sometimes milder, and may only lead to muscle weakness that impairs walking or the ability to get out of bed.

Most people do not have symptoms. It can cause a mild to moderate enlargement of the spleen, splenomegaly, as well as hemolytic anemia (which is the form of anemia due to abnormal breakdown of red blood cells prematurely). Too much hemoglobin C can reduce the number and size of red blood cells in the body, causing mild anemia. Occasionally, jaundice may occur. Some persons with this disease may develop gallstones that require treatment. Continued hemolysis may produce pigmented gallstones, an unusual type of gallstone composed of the dark-colored contents of red blood cells.

FTT may be evaluated through a multifaceted process, beginning with a patient history that notably includes diet history, which is a key element for identifying potential causes of FTT. Next, a complete physical examination may be done, with special attention being paid to identifying possible organic sources of FTT. This could include looking for dysmorphic features, abnormal breathing sounds, and signs of specific vitamin and mineral deficiencies. The physical exam may also reveal signs of possible child neglect or abuse. Based on the information gained from the history and physical examination, a workup can then be conducted, in which possible sources of FTT can be further probed, through blood work, X-rays, or other tests.

Chronic pain in children is unresolved pain that affects activities of daily living and may result in a significant amount of missed school days. It is characterized as mild to severe and is present for long periods of time. Chronic pain can develop from disease or injury with acute pain. Some have described chronic pain as the pain experienced when the child reports a headache, abdominal pain, back pain, generalized pain or combinations of these. Children that experience chronic pain can have psychological effects. In addition, families may also suffer emotionally when the child experiences pain. Caring for a child in pain does have social consequences related to the disability and limitations that accompany the pain. In regards to outside factors, finding solutions for children in pain may generate additional costs from healthcare and lost wages because of the necessary time off from work.

The defining sign of kwashiorkor in a malnourished child is pitting edema (swelling of the ankles and feet). Other signs include a distended abdomen, an enlarged liver with fatty infiltrates, thinning hair, loss of teeth, skin depigmentation and dermatitis. Children with kwashiorkor often develop irritability and anorexia. Generally, the disease can be treated by adding protein to the diet; however, it can have a long-term impact on a child's physical and mental development, and in severe cases may lead to death.

In dry climates, marasmus is the more frequent disease associated with malnutrition. Another malnutrition syndrome includes cachexia, although it is often caused by underlying illnesses. These are important considerations in the treatment of the patients.

PRS symptoms have common characteristics with many other psychiatric disorders. However, none of the present DSM diagnoses can account for the full scope of symptoms seen in PRS, and refusal to eat, weight loss, social withdrawal and school refusal can be considered as the main distinctive features. Any system may be involved, however some more commonly engaged than others.

Gastrointestinal:

- recurring pain

- nausea

- loss of appetite

Neurological:

- headache

- seizure

- motor dysfunction

- sensory dysfunction

- fatigue

- altered consciousness

Musculoskeletal:

- joint pains

- muscle weakness

Sandhoff disease, also known as Sandhoff–Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay–Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset.

Failure to thrive (FTT), more recently known as faltering weight or weight faltering, is a term used in pediatric medicine, as well as veterinary medicine (where it is also referred to as ill-thrift), to indicate insufficient weight gain or inappropriate weight loss. When not more precisely defined, the term refers to pediatric patients. In children, it is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight.

The term ‘failure to thrive’ has been used vaguely and in different contexts to refer to different issues in pediatric growth. It is most commonly used to describe a failure to gain weight, but some providers have also used it to describe a failure to grow, or a failure to grow and to gain weight. As used by pediatricians, it covers poor physical growth of any cause and does not itself imply abnormal intellectual, social, or emotional development, although it can subsequently be a cause of such pathologies. The term has been used in different ways, and different objective standards have been defined. FTT is suggested by a fall in one or more weight centile spaces on a WHO growth chart depending on birth weight or when weight is below the 2nd percentile of weight for age irrespective of birth weight. In children whose birth weight was between the 9th and 91st percentile FTT is indicated by a drop across 2 or more centile spaces. Weight loss after birth is normal and most babies return to their birth weight by 3 weeks of age. Clinical assessment for FTT is recommended for babies who lose more than 10% of their birth weight or do not return to their birth weight after 3 weeks.

A feeding disorder in infancy or early childhood is a child's refusal to eat certain food groups, textures, solids or liquids for a period of at least one month, which causes the child to not gain enough weight, grow naturally, or cause any developmental delays. Feeding disorders resemble failure to thrive, except that at times in feeding disorder there is no medical or physiological condition that can explain the very small amount of food the children consume or their lack of growth. Some of the times a previous medical condition that has been resolved is causing the issue.

Allergies in children are those causes, pathophsiology, treatments, management, practices and control of allergies that develop in children. Up to 40 percent of children suffer from allergic rhinitis. And children are more likely to develop allergies if one or both parents have allergies. Allergies differ between adults and children. Part of the reason for this that the respiratory system in children is smaller. The bronchi and bronchioles are narrower so even a slight decrease in diameter of these airways can have serious consequences. In addition, children often 'outgrow' their allergies.

The incidence of childhood allergies has increased in the past 50 years.

Infants with DG show an impaired ability to metabolize galactose, a sugar found at high levels in breast milk, milk formula, and most dairy products. Galactose is found at low levels in many fruits, vegetables, and other foods. Galactose is also produced at low levels by the human body.

Infants with DG, who consume breast milk or formula containing the milk sugar, lactose, are usually, but not always, asymptomatic. Infants who do show symptoms, such as jaundice, typically recover quickly when switched to a low-lactose diet, such as soy formula.

A few of the medical and psychological conditions that have been known to be associated with this disorder include:

- Gastrointestinal motility disorders

- Oral-motor dysfunction

- Failure to thrive

- Prematurity

- Food allergies

- Sensory problems

- Reflux

- Feeding tube placement

A child that is suffering from malnutrition can have permanently stunted mental and physical development. Getting treatment early is essential and can prevent many of the complications. They can also develop further eating disorders later in life such as anorexia nervosa, or they could become a limited eater—though they could still be a healthy child they may become a picky eater.

Kwashiorkor is a form of severe protein–energy malnutrition characterized by edema, irritability, ulcerating dermatoses, and an enlarged liver with fatty infiltrates. Sufficient calorie intake, but with insufficient protein consumption, distinguishes it from marasmus. Kwashiorkor cases occur in areas of famine or poor food supply. Cases in the developed world are rare.

Jamaican pediatrician Cicely Williams introduced the name into the medical community in a 1935 "Lancet" article, two years after she published the disease's first formal description in the Western medical literature. The name is derived from the Ga language of coastal Ghana, translated as "the sickness the baby gets when the new baby comes" or "the disease of the deposed child", and reflecting the development of the condition in an older child who has been weaned from the breast when a younger sibling comes. Breast milk contains proteins and amino acids vital to a child's growth. In at-risk populations, kwashiorkor may develop after a mother weans her child from breast milk, replacing it with a diet high in carbohydrates, especially sugar.

Characteristic injuries associated with AHT include retinal bleeds, multiple fractures of the long bones, and subdural hematomas (bleeding in the brain). These signs have evolved through the years as the accepted and recognized signs of child abuse. Medical professionals strongly suspect shaking as the cause of injuries when a young child presents with retinal bleed, fractures, soft tissue injuries or subdural hematoma, that cannot be explained by accidental trauma or other medical conditions.

Retinal bleeds occur in around 85% of AHT cases; the type of retinal bleeds are particularly characteristic of this condition, making the finding useful in establishing the diagnosis. While there are many other causes of retinal bleeds besides AHT, there are usually additional findings (eyes or systemic) which make the alternative diagnoses apparent.

Fractures of the vertebrae, long bones, and ribs may also be associated with AHT. Dr. John Caffey reported in 1972 that metaphyseal avulsions (small fragments of bone had been torn off where the periosteum covering the bone and the cortical bone are tightly bound together) and "bones on both the proximal and distal sides of a single joint are affected, especially at the knee".

People after AHT may display irritability, failure to thrive, alterations in eating patterns, lethargy, vomiting, seizures, bulging or tense fontanels (the soft spots on a baby's head), increased size of the head, altered breathing, and dilated pupils.

Hemoglobin c (abbreviated as "Hb C" or "HbC") is an abnormal hemoglobin in which substitution of a glutamic acid residue with a lysine residue at the 6th position of the β-globin chain has occurred (E6K substitution).

People with chondrodystrophy have a normal-sized trunk and abnormally short limbs and extremities (dwarfism). Those affected with the disorder often call themselves dwarves, little people or short-statured persons. Over 100 specific skeletal dysplasias have been identified. Chondrodystrophy is found in all races and in both females and male and occurs in around one of every 25,000 children. Chondrodystrophy and achondroplasia are the most common forms of genetic hyaline disorders.

Hyaline cartilage caps the long bones and the spinal vertebrae. Most childhood limb growth takes place at the ends of the long bones, not in the shaft. Normally, as a child grows, the most interior portion of the joint cartilage converts into bone, and new cartilage forms on the surface to maintain smooth joints. The old joint margins (edges) reabsorb, so that the overall shape of the joint is maintained as growth continues. Failure of this process throughout the body results in skeletal dysplasia. It also leads to very early onset of osteoarthritis, because the defective cartilage is extremely fragile and vulnerable to normal wear and tear.