Traumatic asphyxia, or Perthes' syndrome, is a medical emergency caused by an intense compression of the thoracic cavity, causing venous back-flow from the right side of the heart into the veins of the neck and the brain.

Traumatic asphyxia is characterized by cyanosis in the upper extremities, neck, and head as well as petechiae in the conjunctiva. Patients can also display jugular venous distention and facial edema. Associated injuries include pulmonary contusion, myocardial contusion, hemo/pneumothorax, and broken ribs.

Perthes lesion is variant of Bankart lesion, presenting as an anterior glenohumeral injury that occurs when the scapular periosteum remains intact but is stripped medially and the anterior labrum is avulsed from the glenoid but remains partially attached to the scapula by intact periosteum.

The epileptic seizures which can be observed in infants with West syndrome fall into three categories, collectively known as infantile spasms. Typically, the following triad of attack types appears; while the three types usually appear simultaneously, they also can occur independently of each other:

- "Lightning attacks": Sudden, severe myoclonic convulsions of the entire body or several parts of the body in split seconds, and the legs in particular are bent (flexor muscle convulsions here are generally more severe than extensor ones).

- "Nodding attacks": Convulsions of the throat and neck flexor muscles, during which the chin is fitfully jerked towards the breast or the head is drawn inward.

- "Salaam or jackknife attacks": a flexor spasm with rapid bending of the head and torso forward and simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest and/or flailing. If one imagined this act in slow motion, it would appear similar to the Muslim ceremonial greeting (Salaam), from which this type of attack derives its name.

The lesion is associated with any damage to the antero-inferior labrum. Most commonly due to anterior shoulder dislocation. The lesion often occurs after the initial dislocation. In chronic cases there may be fibrosis and resynovialization of the labrum and periosteum.

The lesion is best identified on MR arthrography. Additional views in "ABER" (ABduction and External Rotation) of the shoulder aid in this diagnosis.

Differential diagnoses include:

- Bankart lesion

- Bankart lesion

- Alpsa lesion

- GLAD

- HAGL

- BHAGL

Treatment is surgical re-attachment of the labrum preferably via arthroscopy.

If a cause presents itself, the syndrome is referred to as "symptomatic" West syndrome, as the attacks manifest as a symptom of another problem. Almost any cause of brain damage could be associated, and these are divided into prenatal, perinatal, and post-natal. The following is a partial list:

- In around one third of the children, there is evidence of a profound organic disorder of the brain. This includes:

- microcephaly

- cortical dysplasia

- cerebral atrophy

- lissencephaly

- bacterial meningitis

- phakomatoses (e.g. tuberous sclerosis)

- Aicardi syndrome

- cephalhematoma and

- vascular malformation.

- Furthermore, other causes increasingly being named in the literature are:

- Incontinentia pigmenti

- Foix-Chavany-Marie syndrome

- Patau syndrome (trisomy 13)

- Sturge-Weber syndrome

- neurometabolic diseases

- congential infections (e.g. Cytomegalovirus)

- hypoglycemia

- brain damage due to asphyxiation or hypoxia (lack of oxygen, e.g. during birth), periventricular leukomalacia, cephalhematoma, cerebrovascular accident or brain damage of various types as well as that caused by premature birth.

Transient synovitis causes pain in the hip, thigh, groin or knee on the affected side. There may be a limp (or abnormal crawling in infants) with or without pain. In small infants, the presenting complaint can be unexplained crying (for example, when changing a diaper). The condition is nearly always limited to one side. The pain and limp can range from mild to severe.

Some children may have a slightly raised temperature; high fever and general malaise point to other, more serious conditions. On clinical examination, the child typically holds the hip slightly bent, turned outwards and away from the middle line (flexion, external rotation and abduction). Active and passive movements may be limited because of pain, especially abduction and internal rotation. The hip can be tender to palpation. The log roll test involves gently rotating the entire lower limb inwards and outwards with the patient on his back, to check when muscle guarding occurs. The unaffected hip and the knees, ankles, feet and spine are found to be normal.

Legg–Calvé–Perthes syndrome is a degenerative disease of the head of the femur which results in bone loss and deformity. It usually presents as a chronic condition.

Cancers including acute lymphocytic leukemia, osteosarcoma, and Ewing’s sarcoma may result in a gradual onset of limping in children. It is often associated with night sweating, easy bruising, weight loss, and pain most prominent at night.

Common symptoms include hip, knee (hip pathology can refer pain to a normal knee), or groin pain, exacerbated by hip or leg movement, especially internal hip rotation (with the knee flexed 90°, twisting the lower leg away from the center of the body). The range of motion is reduced, particularly in abduction and internal rotation, and the patient presents with a limp. Pain is usually mild. Atrophy of thigh muscles may occur from disuse and an inequality of leg length. In some cases, some activity can cause severe irritation or inflammation of the damaged area, including standing, walking, running, kneeling, or stooping repeatedly for an extended period of time. In cases exhibiting severe femoral osteonecrosis, pain is usually a chronic, throbbing sensation exacerbated by activity.

The first signs are complaints of soreness from the child, which are often dismissed as growing pains, and limping or other guarding of the joint, particularly when tired. The pain is usually in the hip, but can also be felt in the knee (referred pain). In some cases, pain is felt in the unaffected hip and leg, due to the children favoring their injured side and placing the majority of their weight on their "good" leg. It is predominantly a disease of boys (4:1 ratio). Perthes is generally diagnosed between 5 and 12 years of age, although it has been diagnosed as early as 18 months. Typically, the disease is only seen in one hip, but bilateral Perthes is seen in about 10% of children diagnosed.

Harlequin syndrome is a condition characterized by asymmetric sweating and flushing on the upper thoracic region of the chest, neck, and face. Harlequin syndrome is considered an injury to the autonomic nervous system (ANS). The ANS controls some of the body's natural processes such as sweating, skin flushing, and pupil response to stimuli. Such individuals with this syndrome have an absence of sweat skin flushing unilaterally; usually on the one side of the face, arms, and chest. It is an autonomic disorder that may occur at any age. Harlequin syndrome affects fewer than 200,000 people in the United States.

Symptoms associated with Harlequin syndrome are more likely to appear when a person has been in the following conditions: exercising, warm environment, and intense emotional situation. Since one side of the body sweats and flushes appropriately to the condition, the other side of the body will have an absence of such symptoms. This syndrome has also been called the "Harlequin sign," and thought to be one of the spectrum of diseases that may cause Harlequin syndrome.

It can also be the outcome of a one sided endoscopic thoracic sympathectomy (ETS) or endoscopic sympathetic blockade (ESB) surgery.

Harlequin syndrome can also be seen as a complication of VA (veno-arterial) extracorporeal membrane oxygenation (ECMO). This involves differential hypoxemia (low oxygen levels in the blood) of the upper body in comparison to the lower body.

The ‘Harlequin Sign’ is unilateral flushing and sweating of the face, neck, and upper chest usually after exposure to heat or strenuous exertion. Horner syndrome, another problem associated with the sympathetic nervous system, is often seen in conjunction with harlequin syndrome.

Since Harlequin syndrome is associated with a dysfunction in the autonomic nervous system, main symptoms of this dysfunction are in the following: Absence of sweat(anhidrosis) and flushing on one side of the face, neck, or upper thoracic area. In addition, other symptoms include cluster headaches, tearing of the eyes, nasal discharge, abnormal contraction of the pupils, weakness in neck muscles, and drooping of on side of the upper eyelid.

Legg–Calvé–Perthes disease (LCPD, also known as Perthes disease or Legg–Perthes disease) is a childhood hip disorder initiated by a disruption of blood flow to the head of the femur. Due to the lack of blood flow, the bone dies (osteonecrosis or avascular necrosis) and stops growing. Over time, healing occurs by new blood vessels infiltrating the dead bone and removing the necrotic bone which leads to a loss of bone mass and a weakening of the femoral head. The bone loss leads to some degree of collapse and deformity of the femoral head and sometimes secondary changes to the shape of the hip socket. It is also referred to as idiopathic avascular osteonecrosis of the capital femoral epiphysis of the femoral head since the cause of the interruption of the blood supply of the head of the femur in the hip joint is unknown.

The condition is most commonly found in children between the ages of 4 and 8, but it can occur in children between the ages of 2 and 15. The main long-term problem with this condition is that it can produce a permanent deformity of the femoral head, which increases the risk of developing osteoarthritis in adults. Perthes is a form of osteochondritis which only affects the hip, although other forms of osteochondritis can affect elbows, knees, ankles, and feet. Bilateral Perthes, which means both hips are affected, should always be investigated thoroughly to rule out multiple epiphyseal dysplasia.

Pain in or around the hip and/or limp in children can be due to a large number of conditions. Septic arthritis (a bacterial infection of the joint) is the most important differential diagnosis, because it can quickly cause irreversible damage to the hip joint. Fever, raised inflammatory markers on blood tests and severe symptoms (inability to bear weight, pronounced muscle guarding) all point to septic arthritis, but a high index of suspicion remains necessary even if these are not present. Osteomyelitis (infection of the bone tissue) can also cause pain and limp.

Bone fractures, such as a toddler's fracture (spiral fracture of the shin bone), can also cause pain and limp, but are uncommon around the hip joint. Soft tissue injuries can be evident when bruises are present. Muscle or ligament injuries can be contracted during heavy physical activity —however, it is important not to miss a slipped upper femoral epiphysis. Avascular necrosis of the femoral head (Legg-Calvé-Perthes disease) typically occurs in children aged 4–8, and is also more common in boys. There may be an effusion on ultrasound, similar to transient synovitis.

Neurological conditions can also present with a limp. If developmental dysplasia of the hip is missed early in life, it can come to attention later in this way. Pain in the groin can also be caused by diseases of the organs in the abdomen (such as a psoas abscess) or by testicular disease. Rarely, there is an underlying rheumatic condition (juvenile idiopathic arthritis, Lyme arthritis, gonococcal arthritis, ...) or bone tumour.

Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened, and the development of a limp. It is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, causing it to bend under the weight of the body. This may either be congenital or the result of a bone disorder. The most common cause of coxa vara is either congenital or developmental. Other common causes include metabolic bone diseases (e.g. Paget's disease of bone), post-Perthes deformity, osteomyelitis, and post traumatic (due to improper healing of a fracture between the greater and lesser trochanter). Shepherd's Crook deformity is a severe form of coxa vara where the proximal femur is severely deformed with a reduction in the neck shaft angle beyond 90 degrees. It is most commonly a sequela of osteogenesis imperfecta, Pagets disease, osteomyelitis, tumour and tumour-like conditions (e.g. fibrous dysplasia).

Coxa vara can happen in cleidocranial dysostosis.

Avascular necrosis (AVN), also called osteonecrosis or bone infarction, is death of bone tissue due to interruption of the blood supply. Early on there may be no symptoms. Gradually joint pain may develop which may limit the ability to move. Complication may include collapse of the bone or nearby joint surface.

Risk factors include bone fractures, joint dislocations, alcoholism, and the use of high dose steroids. The condition may also occur without any clear reason. The most commonly affected bone is the femur. Other relatively common sites include the upper arm bone, knee, shoulder, and ankle. Diagnosis is typically by medical imaging such as X-ray, CT scan, or MRI. Rarely biopsy may be used.

Treatments may include medication, not walking on the affected leg, stretching, and surgery. Most of the time surgery is eventually required and may include core decompression, osteotomy, bone grafts, or joint replacement. About 15,000 cases occur per year in the United States. People 30 to 50 years old are most commonly affected. Males are more commonly affected than females.

These conditions nearly all present with an insidious onset of pain referred to the location of the bony damage. Some, notably Kienbock's disease of the wrist, may involve considerable swelling, and Legg-Calvé-Perthes disease of the hip causes the victim to limp. The spinal form, Scheuermann's disease, may cause bending, or kyphosis of the upper spine, giving a "hunch-back" appearance.

In many cases there is pain and discomfort in a joint which increases over time. While it can affect any bone, about half of cases show multiple sites of damage. Avascular necrosis primarily affects the joints at the shoulder, knee, and hip. The classical sites are: head of femur, neck of talus and waist of the scaphoid.

Avascular necrosis most commonly affects the ends of long bones such as the femur (the bone extending from the knee joint to the hip joint). Other common sites include the humerus (the bone of the upper arm), knees, shoulders, ankles and the jaw.

The following is a list of symptoms that have been associated with Roberts syndrome:

- Bilateral Symmetric Tetraphocomelia- a birth defect in which the hands and feet are attached to shortened arms and legs

- Prenatal Growth Retardation

- Hypomelia (Hypoplasia)- the incomplete development of a tissue or organ; less drastic than aplasia, which is no development at all

- Oligodactyly- fewer than normal number of fingers or toes

- Thumb Aplasia- the absence of a thumb

- Syndactyly- condition in which two or more fingers (or toes) are joined together; the joining can involve the bones or just the skin between the fingers

- Clinodactyly- curving of the fifth finger (little finger) towards the fourth finger (ring finger) due to the underdevelopment of the middle bone in the fifth finger

- Elbow/Knee Flexion Contractures- an inability to fully straighten the arm or leg

- Cleft Lip- the presence of one or two vertical fissures in the upper lip; can be on one side (unilateral) or on both sides (bilateral)

- Cleft Palate- opening in the roof of the mouth

- Premaxillary Protrusion- upper part of the mouth sticks out farther than the lower part of the mouth

- Micrognathia- small chin

- Microbrachycephaly- smaller than normal head size

- Malar Hypoplasia- underdevelopment of the cheek bones

- Downslanting Palpebral Fissures- the outer corners of the eyes point downwards

- Ocular Hypertelorism- unusually wide-set eyes

- Exophthalmos- a protruding eyeball

- Corneal Clouding- clouding of the front-most part of the eye

- Hypoplastic Nasal Alae- narrowing of the nostrils that can decrease the width of the nasal base

- Beaked Nose- a nose with a prominent bridge that gives it the appearance of being curved

- Ear Malformations

- Intellectual disability

- Encephalocele (only in severe cases)- rare defect of the neural tube characterized by sac-like protrusions of the brain

Mortality is high among those severely affected by Roberts syndrome; however, mildly affected individuals may survive to adulthood

The syndrome is a rare clinical disorder.

- Physical

- Overgrowth

- Accelerated skeletal maturation

- Dysmorphic facial features

- Prominent eyes

- Bluish sclerae

- Coarse eyebrows

- Upturned nose

- Radiologic examination

- Accelerated osseous maturation

- Phalangeal abnormalities

- Tubular thinning of the long bones

- Skull abnormalities

- Mental

- Often associated with intellectual disability (of variable degree)

Many people with this disorder have a premature fusion of skull bones along the coronal suture. Not every case has had craniosynostosis however. Other parts of the skull may be malformed as well. This will usually cause an abnormally shaped head, wide-set eyes, low set ears and flattened cheekbones in these patients. About 5 percent of affected individuals have an enlarged head (macrocephaly). There may also be associated hearing loss in 10-33% of cases and it is important for affected individuals to have hearing tests to check on the possibility of a problem. They can lose about 33-100% of hearing.

Most people with this condition have normal intellect, but developmental delay and learning disabilities are possible. The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.

Pleurothotonus, commonly known as Pisa syndrome, is a rare neurological disorder which occurs due to prolonged exposure to antipsychotic drugs (which may also be referred to as neuroleptics). It is characterized by dystonia, and abnormal and sustained involuntary muscle contraction. This may cause twisting or jerking movements of the body or a body part. Although Pisa syndrome develops most commonly in those undergoing long-term treatment with antipsychotics, it has been reported less frequently in patients receiving other medications, such as an acetylcholinesterase inhibitor. However, it has also been seen in those with other diseases causing neurodegeneration and in those who are not receiving any medication (idiopathic Pisa syndrome). The characteristic development of Pisa syndrome consists of two types of dystonia: acute dystonia and tardive dystonia (also known as tardive dyskinesia). The underlying pathology of drug-induced Pisa syndrome is very complex, and development may be due to an underlying dopaminergic-cholinergic imbalance, or serotonergic/noradrenergic dysfunction.

3C syndrome, also known as CCC dysplasia, Craniocerebellocardiac dysplasia or Ritscher–Schinzel syndrome, is a rare condition, whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.

The predominant symptom of Pisa syndrome is dystonia. Dystonia is a neurological movement disorder characterized by sustained muscle contraction leading to abnormal posture, twisting, and repetitive movement. In Pisa Syndrome specifically there is commonly a tonic flexion of the trunk of the body to one side, leading to a slight lean (reminiscent of the Leaning Tower of Pisa, hence the name "Pisa syndrome"). This is usually associated with a backward axial rotation of the spine and indifferent to markedly abnormal posture. Patients diagnosed with Pisa Syndrome usually experience either acute dystonia or tardive dystonia, also known as tardive dyskinesia. Differential diagnosis between the two may be hard to accomplish without a complete patient history, since both types of dystonia may occur simultaneously in a patient. These symptoms generally disappear after discontinuation of the antipsychotic drug. The time of onset of symptoms may vary depending on drug being administered and the neurological characteristics of the patient in question.

Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome. Confirmation of this theory awaits the discovery of a causative gene. Symptoms typically appear before a baby reaches about 5 months of age.