Apotemnophilia has been studied for a number of years to determine whether this disorder is actually neurological or psychological. However, in-depth research related to apotemnophilia and its correlation to the mind and body are still not clear. Recent research has shown small breakthroughs such that apotemnophiles are three times more likely to want removal of a left limb than right, in accordance with damage to the right parietal lobe, and also in concordance with sufferers of somatoparaphrenia; in addition, skin conductance response is significantly different above and below the line of desired amputation, and the line of desired amputation remains stable over time, with the desire often beginning in early childhood. Among a convenience sample of 52 apotemnophiles recruited from internet groups, the great majority wanted a single leg removed, cut above the knee. There are parallels between apotemnophilia as a motivation for body integrity identity disorder and autogynephilia as a motivation for some cases of male-to-female gender dysphoria.

A 2014 review concluded that

Apotemnophia / Body Integrity Disorder (BIID) is a is a rare, infrequently studied and highly secretive condition in which there is a mismatch between the mental body image and the physical body. Apotemnomphilia is characterized by an intense desire for amputation of a limb. Currently BIID is not included in the International Statistical Classification of Diseases 11 or the Diagnostic and Statistical Manual of Mental Disorders IV. It is often not known to surgeons, neurologists and psychiatrists. BIID individuals typically avoid healthcare and often act out their desires by pretending they are disabled or perform actual self-amputation.

A 2012 study concluded, based on interviews with 54 individuals, that the main rationale for their desire for body modification (amputation) was to feel complete or to feel satisfied inside. Based on the results of the survey, researchers concluded that psychotherapy was often supportive, but did not help diminishing BIID symptoms. Individuals reported that antidepressants were helpful in reducing depressive symptoms related to BIID, but that antipsychotics were not. Actual amputation of the limb was effective in all 7 cases who had surgical treatment.

Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs.

Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line.

Vestigial structures are anatomical structures of organisms in a species which are considered to have lost much or all of their original function through evolution. These body parts can be classed as additional to the required functioning of the body. In human anatomy the vermiform appendix is sometimes classed as a vestigial remnant.

Prosthesis is an artificial extension that replaces a body part, and cybernetics is the study of computer technology in relation to organisms which can include replacement or additional body parts.

Body integrity identity disorder (BIID) is a psychiatric disorder in which a person thinks that they have one or more additional limbs than they should, despite having two arms and two legs. People with this condition often wish to amputate what they see as additional body parts.

A phantom limb is the sensation that a missing limb is still attached to the body.

A supernumerary phantom limb is the sensation of having an extra limb or body part despite no such limb actually existing. It is an uncommon syndrome, usually due to some kind of brain injuries in the somatosensory cortex or in some parts of the right hemisphere of the brain, usually due to a stroke in the brain.

A chimera is an animal or plant that has two or more different populations of genetically distinct cells that originated in different zygotes that have merged; anatomical structures are typically mixed depending on which cells are prevalent in different body parts, for example plants can have two different types of flowers.

A mosaic is a genetic anomaly similar in nature and effects to a chimera: genetically different populations of cells within one organism, originated from some propagated mutation of a single cell rather than from outside sources.