There are few good estimates of prevalence for pes cavus in the general community. While pes cavus has been reported in between 2 and 29% of the adult population, there are several limitations of the prevalence data reported in these studies. Population-based studies suggest the prevalence of the cavus foot is approximately 10%.

Pigeon toe (also known as metatarsus varus, metatarsus adductus, in-toe gait, intoeing or false clubfoot) is a condition which causes the toes to point inward when walking. It is most common in infants and children under two years of age and, when not the result of simple muscle weakness, normally arises from underlying conditions, such as a twisted shin bone or an excessive anteversion (femoral head is more than 15° from the angle of torsion) resulting in the twisting of the thigh bone when the front part of a person's foot is turned in.

Severe cases are considered a form of clubfoot.

Pes cavus may be hereditary or acquired, and the underlying cause may be neurological, orthopedic, or neuromuscular. Pes cavus is sometimes—but not always—connected through Hereditary Motor and Sensory Neuropathy Type 1 (Charcot-Marie-Tooth disease) and Friedreich's Ataxia; many other cases of pes cavus are natural.

The cause and deforming mechanism underlying pes cavus is complex and not well understood. Factors considered influential in the development of pes cavus include muscle weakness and imbalance in neuromuscular disease, residual effects of congenital clubfoot, post-traumatic bone malformation, contracture of the plantar fascia, and shortening of the Achilles tendon.

Among the cases of neuromuscular pes cavus, 50% have been attributed to Charcot-Marie-Tooth disease, which is the most common type of inherited neuropathy with an incidence of 1 per 2,500 persons affected. Also known as Hereditary Motor and Sensory Neuropathy (HMSN), it is genetically heterogeneous and usually presents in the first decade of life with delayed motor milestones, distal muscle weakness, clumsiness, and frequent falls. By adulthood, Charcot-Marie-Tooth disease can cause painful foot deformities such as pes cavus. Although it is a relatively common disorder affecting the foot and ankle, little is known about the distribution of muscle weakness, severity of orthopaedic deformities, or types of foot pain experienced. There are no cures or effective courses of treatment to halt the progression of any form of Charcot-Marie-Tooth disease.

The development of the cavus foot structure seen in Charcot-Marie-Tooth disease has been previously linked to an imbalance of muscle strength around the foot and ankle. A hypothetical model proposed by various authors describes a relationship whereby weak evertor muscles are overpowered by stronger invertor muscles, causing an adducted forefoot and inverted rearfoot. Similarly, weak dorsiflexors are overpowered by stronger plantarflexors, causing a plantarflexed first metatarsal and anterior pes cavus.

Pes cavus is also evident in people without neuropathy or other neurological deficit. In the absence of neurological, congenital, or traumatic causes of pes cavus, the remaining cases are classified as being ‘idiopathic’ because their aetiology is unknown.

There are many hypotheses about how clubfoot develops. Some hypothesis include: environmental factors, genetics, or a combination of both. Research has not yet pinpointed the root cause, but many findings agree that "it is likely there is more than one different cause and at least in some cases the phenotype may occur as a result of a threshold effect of different factors acting together."

Some researchers hypothesize, from the early development stages of humans, that clubfoot is formed by a malfunction during gestation. Early amniocentesis (11–13 wks) is believed to increase the rate of clubfoot because there is an increase in potential amniotic leakage from the procedure. Underdevelopment of the bones and muscles of the embryonic foot may be another underlying cause. In the early 1900s it was thought that constriction of the foot by the uterus contributed to the occurrence of clubfoot.

Underdevelopment of the bones also affects the muscles and tissues of the foot. Abnormality in the connective tissue causes "the presence of increased fibrous tissue in muscles, fascia, ligaments and tendon sheaths".

The tibia or lower leg slightly or severely twists inward when walking or standing.

Clubfoot is a birth defect where one or both feet are rotated inwards and downwards. The affected foot, calf, and leg may be smaller than the other. In about half of those affected, both feet are involved. Most cases are not associated with other problems. Without treatment, people walk on the sides of their feet which causes issues with walking.

The exact cause is usually unclear. A few cases are associated with distal arthrogryposis or myelomeningocele. If one identical twin is affected there is a 33% chance the other one will be as well. Diagnosis may occur at birth or before birth during an ultrasound exam.

Initial treatment is most often with the Ponseti method. This involves moving the foot into an improved position followed by casting, which is repeated at weekly intervals. Once the inward bending is improved, the Achilles tendon is often cut and braces are worn until the age of four. Initially the brace is worn nearly continuously and then just at night. In about 20% of cases further surgery is required.

Clubfoot occurs in about one in 1,000 newborns. The condition is less common among the Chinese and more common among Maori. Males are affected about twice as often as females. Treatment can be carried out by a range of healthcare providers and can generally be achieved in the developing world with few resources.

Arthrogryposis is a rare condition. Some authors say the overall prevalence is one in 3000 and others say it is one in 11000-12000 among European live births. Congenital clubfoot is the most common single contracture and its prevalence is one in 500 live births.

70-80% of the cases of the most severe forms of arthrogryposis are caused by neurological abnormalities, which can be either genetic or environmental.

The underlying aetiology and pathogenesis of congenital contractures, particularly arthrogryposis and the mechanism of the mutations remains an active area of investigation. Because identifying these factors could help to develop treatment and congenital finding of arthrogryposis.

The prognosis depends on the location and severity of the constricting bands. Every case is different and multiple bands may be entangled around the fetus.

Bands which wrap around fingers and toes can result in syndactyly or amputations of the digits. In other instances, bands can wrap around limbs causing restriction of movement resulting in clubbed feet. In more severe cases, the bands can constrict the limb causing decreased blood supply and amputation. Amniotic bands can also sometimes attach to the face or neck causing deformities such as cleft lip and palate. If the bands become wrapped around the head or umbilical cord it can be life-threatening for the fetus.

The number of cases of miscarriage that can be attributed to ABS is unknown, although it has been reported that it may be the cause of 178 in 10,000 miscarriages.

Ankylosis or anchylosis (from Greek ἀγκύλος, bent, crooked) is a stiffness of a joint due to abnormal adhesion and rigidity of the bones of the joint, which may be the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.

When the structures outside the joint are affected, the term "false ankylosis" has been used in contradistinction to "true ankylosis", in which the disease is within the joint. When inflammation has caused the joint-ends of the bones to be fused together, the ankylosis is termed "osseous" or complete and is an instance of synostosis. Excision of a completely ankylosed shoulder or elbow may restore free mobility and usefulness to the limb. "Ankylosis" is also used as an anatomical term, bones being said to ankylose (or anchylose) when, from being originally distinct, they coalesce, or become so joined together that no motion can take place between them.

In 2014, there was a rare case of Ankylosis, wherein a six-year old girl was able to open her mouth only a couple millimeters after one of her jaw joints got fused. Liliana Cernecca was the patient's name. She underwent a surgery at King's College Hospital in London, during which her jaw was operated on and unlocked.She was said to be one of the youngest patients to have undergone this surgery.

Fibrous ankylosis is a fibrous connective tissue process which results in decreased range of motion. Symptoms present as bony ankylosis, in which osseous tissue fuses two bones together reducing mobility, which is why fibrous ankylosis is also known as false ankylosis.

Pathology may be the result of trauma, disease, chronic inflammation, or surgery.

Some research suggests fibrous ankylosis may precede the development of bony ankylosis

Amniotic band syndrome is considered an accidental event and it does not appear to be genetic or hereditary, so the likelihood of it occurring in another pregnancy is remote. The cause of amnion tearing is unknown and as such there are no known preventative measures.

Evidence for ankylosis found in the fossil record is studied by paleopathologists, specialists in ancient disease and injury. Ankylosis has been reported in dinosaur fossils from several species, including "Allosaurus fragilis", "Becklespinax altispinax", "Poekilopleuron bucklandii", and "Tyrannosaurus rex" (including the Stan specimen).

A hygroma, or a false bursa, is a discrete, fluid-filled sac that can form on the joints of dogs in response to repeated pressure, such as that from sitting on a hard surface. It is treated by draining the fluid and may be prevented by providing padded bedding.

An untreated hygroma can develop into in a large enough swelling that stress the surrounding skin and becomes an open wound with the possibility of infection that is much more difficult to treat. In most cases a hygroma is a once in a lifetime occurrence for an animal, but other individuals will have repeated problems with hygromas.

A recent article in 2015 reported a persistent notochord in a fetus at 23 weeks of gestation. The fetus had an abnormal spine, shortened long bones and a left clubfoot. After running postmortem tests and ultrasound, the researchers believed that the fetus suffered from hypochondrogenesis. Hypochondrogenesis is caused when type II collagen is abnormally formed due to a mutation in the COL2A1 gene. Normally, the cartilaginous notochord develops into the bony vertebrae in a human body. The COL2A1 gene results in malformed type II collagen, which is essential in the transition from collagen to bone. This is the first time that researchers found a persistent notochord in a human body due to a COL2A1 mutation.

Kniest Dysplasia is an autosomal dominant condition. This means that the person only needs to have one copy of the mutated gene in order to have the condition. People with a family history are at a higher risk of having the disease than people with no family history. A random mutation in the gene can cause a person with no family history to also have the condition.

Several people with distal 18q- have been diagnosed with low IgA levels, resulting in an increased incidence of infections.

Hypothyroidism has been reported in some people with distal 18q-.

They are more common in males than females, occurring in a ratio of about 5:1. They are strongly associated with the presence of torus mandibularis and torus palatinus.

Proximal 18q- is caused by an interstitial deletion of chromosome 18 involving the proximal region of the long arm of chromosome 18.

Gastrointestinal anomalies are not common in people with proximal 18q-, though there has been at least one individual reported that required g-tube feedings.

A buccal exostosis (also termed alveolar exostosis), is an exostosis (bone prominence) on the buccal surface (cheek side) of the alveolar ridge of the maxilla or mandible. Some consider them a variation of normal anatomy rather than a disease.

Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses and metaphyses). This type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, types II and XI.

The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder. Beginning in childhood, the two conditions can be distinguished in X-ray images by changes in areas near the ends of bones (metaphyses). These changes are characteristic of spondyloepimetaphyseal dysplasia, Strudwick type.

It is one of a spectrum of skeletal disorders caused by mutations in the "SLC26A2" gene. The protein encoded by this gene is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, but in adulthood this tissue continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.

This condition is an autosomal recessive disorder, meaning that the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. The parents of a child with an autosomal recessive disorder are usually not affected by the disorder.