TOS affects mainly the upper limbs, with signs and symptoms manifesting in the shoulders, neck, arms and hands. Pain can be present on an intermittent or permanent basis. It can be sharp/stabbing, burning, or aching. TOS can involve only part of the hand (as in the pinky and adjacent half of the ring finger), all of the hand, or the inner aspect of the forearm and upper arm. Pain can also be in the side of the neck, the pectoral area below the clavicle, the armpit/axillary area, and the upper back (i.e., the trapezius and rhomboid area). Discoloration of the hands, one hand colder than the other hand, weakness of the hand and arm muscles, and tingling are commonly present.

TOS is often the underlying cause of refractory upper limb conditions like frozen shoulder and carpal tunnel syndrome that frequently defy standard treatment protocols. TOS can be related to Forward head posture.

A painful, swollen and blue arm, particularly when occurring after strenuous physical activity, could be the first sign of a subclavian vein compression related with an unknown TOS and complicated by thrombosis (blood clots), the so-called Paget–Schroetter syndrome or effort-induced thrombosis.

TOS can be related to cerebrovascular arterial insufficiency when affecting the subclavian artery. It also can affect the vertebral artery, in which case it could produce vision disturbances, including transient blindness, and embolic cerebral infarction.

TOS can also lead to eye problems and vision loss as a circumstance of vertebral artery compression. Although very rare, if compression of the brain stem is also involved in an individual presentation of TOS, transient blindness may occur while the head is held in certain positions.

If left untreated, TOS can lead to neurological deficits as a result of the hypoperfusion and hypometabolism of certain areas of the brain and cerebellum.

Head pain occurs in 50–75% of all cases of vertebral artery dissection. It tends to be located at the back of the head, either on the affected side or in the middle, and develops gradually. It is either dull or pressure-like in character or throbbing. About half of those with VAD consider the headache distinct, while the remainder have had a similar headache before. It is suspected that VAD with headache as the only symptom is fairly common; 8% of all cases of vertebral and carotid dissection are diagnosed on the basis of pain alone.

Obstruction of blood flow through the affected vessel may lead to dysfunction of part of the brain supplied by the artery. This happens in 77–96% of cases. This may be temporary ("transient ischemic attack") in 10–16% of cases, but many (67–85% of cases) end up with a permanent deficit or a stroke. The vertebral artery supplies the part of the brain that lies in the posterior fossa of the skull, and this type of stroke is therefore called a posterior circulation infarct. Problems may include difficulty speaking or swallowing (lateral medullary syndrome); this occurs in less than a fifth of cases and occurs due to dysfunction of the brainstem. Others may experience unsteadiness or lack of coordination due to involvement of the cerebellum, and still others may develop visual loss (on one side of the visual field) due to involvement of the visual cortex in the occipital lobe. In the event of involvement of the sympathetic tracts in the brainstem, a partial Horner's syndrome may develop; this is the combination of a drooping eyelid, constricted pupil, and an apparently sunken eye on one side of the face.

If the dissection of the artery extends to the part of the artery that lies inside the skull, subarachnoid hemorrhage may occur (1% of cases). This arises due to rupture of the artery and accumulation of blood in the subarachnoid space. It may be characterized by a different, usually severe headache; it may also cause a range of additional neurological symptoms.

13–16% of all people with vertebral or carotid dissection have dissection in another cervical artery. It is therefore possible for the symptoms to occur on both sides, or for symptoms of carotid artery dissection to occur at the same time as those of vertebral artery dissection. Some give a figure of multiple vessel dissection as high as 30%.

There are three main types of TOS, named according to the cause of the symptoms; however, these three classifications have been coming into disfavor because TOS can involve all three types of compression to various degrees. The compression can occur in three anatomical structures (arteries, veins and nerves), it can be isolated, or, more commonly, two or three of the structures are compressed to greater or lesser degrees. In addition, the compressive forces can be of different magnitude in each affected structure. Therefore, symptoms can be variable.

- Neurogenic TOS includes disorders produced by compression of components of the brachial plexus nerves. The neurogenic form of TOS accounts for 95% of all cases of TOS.

- Arterial TOS is due to compression of the subclavian artery. This is less than one percent of cases.

- Venous TOS is due to compression of the subclavian vein. This makes up about 4% of cases.

Among the signs and symptoms demonstrated, by this condition are the following:

- Arachnodactyly

- Congenital diaphragmatic hernia

- Mental dysfunction

- Keratoconus

- Aortic regurgitation

- Blepharophimosis

Vertebral artery dissection is one of the two types of dissection of the arteries in the neck. The other type, carotid artery dissection, involves the carotid arteries. Vertebral artery dissection is further classified as being either traumatic (caused by mechanical trauma to the neck) or spontaneous, and it may also be classified by the part of the artery involved: extracranial (the part outside the skull) and intracranial (the part inside the skull).

The causes of internal carotid artery dissection can be broadly categorised into two classes: spontaneous or traumatic.

Posterior spinal artery syndrome is much rarer than its anterior counterpart as the white matter structures that are present are much less vulnerable to ischemia since they have a better blood supply. When posterior spinal artery syndrome does occur, dorsal columns are damaged and ischemia may spread into the posterior horns. Clinically the syndrome presents as a loss of tendon reflexes and loss of joint position sense

The signs and symptoms of carotid artery dissection may be divided into ischemic and non-ischemic categories:

"Non-ischemic signs and symptoms"

- Localised headache, particularly around one of the eyes.

- Neck pain

- Decreased pupil size with drooping of the upper eyelid (Horner syndrome)

- Pulsatile tinnitus

"Ischemic signs and symptoms"

- Temporary vision loss

- Ischemic stroke

Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.

Transient ischemic attacks (TIAs) rarely affect the spinal cord and usually affect the brain; however, cases have been documented in these areas. Spinal ateriovenous malformations are the main cause and are represented later in this article. However, TIAs can result from emboli in calcific aortic disease and aortic coarctation.

Thoracic insufficiency syndrome is the inability of the thorax to support normal respiration. It is frequently associated with chest and/or spinal abnormalities. Treatment options are limited, but include supportive pulmonary care and surgical options (thoracoplasty and/or implantation of vertical expandable prosthetic titanium rib (VEPTR) devices).

Pseudohypertension, also known as pseudohypertension in the elderly, noncompressibility artery syndrome, and Osler's sign of pseudohypertension is a falsely elevated blood pressure reading obtained through sphygmomanometry due to calcification of blood vessels which cannot be compressed. There is normal blood pressure when it is measured from within the artery. This condition however is associated with significant cardiovascular disease risk.

Because the stiffened arterial walls of arteriosclerosis do not compress with pressure normally, the blood pressure reading is theoretically higher than the true intra-arterial measurement.

To perform the test, one first inflates the blood pressure cuff above systolic pressure to obliterate the radial pulse. One then attempts to palpate the radial artery, a positive test is if it remains palpable as a firm "tube".

It occurs frequently in the elderly irrespective of them being hypertensive, and has moderate to modest intraobserver and interobserver agreement. It is also known as "Osler's maneuver".

The sign is named for William Osler.

Blue toe syndrome is a situation that may reflect atherothrombotic microembolism, causing transient focal ischaemia, occasionally with minor apparent tissue loss, but without diffuse forefoot ischemia. The development of blue or violaceous toes can also occur with trauma, cold-induced injury, disorders producing generalized cyanosis, decreased arterial flow, impaired venous outflow, and abnormal circulating blood.

The terms "blue toe syndrome", "grey toe syndrome" and "purple toe syndrome" are sometimes used interchangeably.

Studies may include echocardiography, thoracic and abdominal CT or MRI, peripheral arterial run off imaging studies, hypercoagulopathy labs, and interrogation of syndromes that lead to peripheral vascular pathology.

In mild cases, children may show no signs or symptoms at first and their condition may not be diagnosed until later in life. Some children born with coarctation of the aorta have other heart defects too, such as aortic stenosis, ventricular septal defect, patent ductus arteriosus or mitral valve abnormalities.

Coarctation is about twice as common in boys as it is in girls. It is common in girls who have Turner syndrome.

Symptoms may be absent with mild narrowings (coarctation). When present, they include: difficulty breathing, poor appetite or trouble feeding, failure to thrive. Later on, children may develop symptoms related to problems with blood flow and an enlarged heart. They may experience dizziness or shortness of breath, faint or near-fainting episodes, chest pain, abnormal tiredness or fatigue, headaches, or nosebleeds. They have cold legs and feet or have pain in their legs with exercise (intermittent claudication).

In more severe cases, where severe coarctations, babies may develop serious problems soon after birth because not enough blood can get through the aorta to the rest of their body.

Arterial hypertension in the arms with low blood pressure in the lower extremities is classic. In the lower extremities, weak pulses in the femoral arteries and arteries of the feet are found.

The coarctation typically occurs after the left subclavian artery. However, if situated before it, blood flow to the left arm is compromised and asynchronous or radial pulses of different "strength" may be detected (normal on the right arm, weak or delayed on the left), termed "radio-radial delay". In these cases, a difference between the normal radial pulse in the right arm and the delayed femoral pulse in the legs (either side) may be apparent, whilst no such delay would be appreciated with palpation of both delayed left arm and either femoral pulses. On the other hand, a coarctation occurring after the left subclavian artery will produce synchronous radial pulses, but "radio-femoral delay" will be present under palpation in either arm (both arm pulses are normal compared to the delayed leg pulses).

With imaging, resorption of the lower part of the ribs may be seen, due to increased blood flow over the neurovascular bundle that runs there. Prestenotic dilatation of the aortic arch and left subclavian artery, as well as indentation at the site of coarctation results in a classic 'figure 3 sign' on x-ray. The characteristic bulging of the sign is caused by dilatation of the aorta due to an indrawing of the aortic wall at the site of cervical rib obstruction, with consequent poststenotic dilatation. This physiology results in the '3' image for which the sign is named. When the esophagus is filled with barium, a reverse 3 or E sign is often seen and represents a mirror image of the areas of prestenotic and poststenotic dilatation.

Coarctation of the aorta can be accurately diagnosed with magnetic resonance angiography. In teenagers and adults echocardiograms may not be conclusive.

The severity of coarctation of the aorta can be rated by a combination of the smallest aortic cross-sectional area of the aorta (adjusted for body surface area) as measured by 3D-rendered contrast MRI, as well as mean heart rate–corrected flow deceleration in the descending aorta as measured by phase contrast magnetic resonance imaging.

Note: *faciobrachial deficits greater than that of the lower limb

Cardiac defects are similar to those associated with Marfan's syndrome, a disorder of the connective tissue.

- Elongation of aorta

- Bicuspid aortic valve

- Subaortic stenosis

- Mitral valve prolapse with mitral regurgitation

- Atrial septal defect

- Patent ductus arteriosus

- Tricuspid valve prolapse

- Aortic dissection and aneurysm

- Aneurysm of ductus arteriosus

Cardiac ischemia may be asymptomatic or may cause chest pain, known as angina pectoris. It occurs when the heart muscle, or myocardium, receives insufficient blood flow. This most frequently results from atherosclerosis, which is the long-term accumulation of cholesterol-rich plaques in the coronary arteries. Ischemic heart disease is the most common cause of death in most Western countries and a major cause of hospital admissions.

Cavernous sinus thrombosis is a specialised form of cerebral venous sinus thrombosis, where there is thrombosis of the cavernous sinus of the basal skull dura, due to the retrograde spread of infection and endothelial damage from the danger triangle of the face. The facial veins in this area anastomose with the superior and inferior ophthalmic veins of the orbit, which drain directly posteriorly into the cavernous sinus through the superior orbital fissure. Staphyloccoal or Streptococcal infections of the face, for example nasal or upper lip pustules may thus spread directly into the cavernous sinus, causing stroke-like symptoms of double vision, squint, as well as spread of infection to cause meningitis.

Reduced blood flow to the skin layers may result in mottling or uneven, patchy discoloration of the skin

An arterial thrombus or embolus can also form in the limbs, which can lead to acute limb ischemia.

Middle cerebral artery syndrome is a condition whereby the blood supply from the middle cerebral artery (MCA) is restricted, leading to a reduction of the function of the portions of the brain supplied by that vessel: the lateral aspects of frontal, temporal and parietal lobes, the corona radiata, globus pallidus, caudate and putamen. The MCA is the most common site for the occurrence of ischemic stroke.

Depending upon the location and severity of the occlusion, signs and symptoms may vary within the population affected with MCA syndrome. More distal blockages tend to produce milder deficits due to more extensive branching of the artery and less ischemic response. In contrast, the most proximal occlusions result in widespread effects that can lead to significant cerebral edema, increased intracranial pressure, loss of consciousness and could even be fatal. In such occasions, mannitol (osmotic diuretic) or hypertonic saline are given to draw fluid out of the edematous cerebrum to minimise secondary injury. Hypertonic saline is better than mannitol, as mannitol being a diuretic will decrease the mean arterial pressure and since cerebral perfusion is mean arterial pressure minus intracranial pressure, mannitol will also cause a decrease in cerebral perfusion.

Contralateral hemiparesis and hemisensory loss of the face, upper and lower extremities is the most common presentation of MCA syndrome. Lower extremity function is more spared than that of the faciobrachial region. The majority of the primary motor and somatosensory cortices are supplied by the MCA and the cortical homunculus can, therefore, be used to localize the defects more precisely. Middle cerebral artery lesions mostly affect the dominant hemisphere i.e. the left cerebral hemisphere.

These symptoms were found in rare cases of Larsen syndrome.

- Cataracts

- Cleft palate

- Extra bones of wrist

- Malocclusion

- Microdontia and hypodontia

- Complete agenesis of anus

- uterus

- Bifid tongue

A bifid rib (bifurcated rib or sternum bifidum) is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans. Bifid ribs occur in up to 8.4% of Samoans. The sternal end of the rib is cleaved into two. It is usually unilateral.

Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties, neurological difficulties, limitations, and limited energy from the stress of needing to compensate for the neurophysiological difficulties. Another association is with odontogenic keratocysts (OKC [a.k.a keratocystic odontogenic tumor (WHO terminology)]) of the jaw which may behave aggressively and have a high propensity to recur when treated with simple enucleation and curettage. When seen together, the patient is likely to have Nevoid Basal Cell Carcinoma Syndrome (a.k.a. Gorlin-Goltz syndrome) and should be evaluated with this in mind.

Very frequent signs

- Abnormal gastrointestinal tract

- Absent pectoral muscles

- Brachydactyly (Short fingers)

- Dextrocardia

- Diaphragmatic hernia/defect

- Humerus absent/abnormal

- Liver/biliary tract anomalies

- Maternal diabetes

- Oligodactyly/missing fingers

- Radius absent/abnormal

- Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)

- Sparsity or abnormality of axillary hair on affected side

- Syndactyly of fingers (webbing)

- Ulna absent/abnormal

- Upper limb asymmetry

- Abnormal rib

- Simian crease on affected side

Frequent signs

- Hypoplastic/absent nipples

- Scapula anomaly

Occasional signs

- Agenesis/hypoplasia of kidneys

- Encephalocele/exencephaly

- Abnormal morphology of hypothalamic-hypophyseal axis

- Abnormal function of hypothalamic-hypophyseal axis

- Microcephaly

- Preaxial polydactyly

- Ureteric anomalies (reflux/duplex system)

- Vertebral segmentation anomaly