In populations with a high rate of consanguinity, the offspring of a person with GPR56-related BFPP and a reproductive partner who is a carrier of GPR56-related BFPP have a 50% chance of inheriting two GPR56 disease-causing alleles and having BFPP and a 50% chance of being carriers.Other family members of a proband. Each sibling of the probands parents is at a 50% risk of being a carrier

Diagnosis
Diagnostic criteria for a BFPP patient entails a heterozygous genotype for a deletion of chromosome 16q12.1-q21 region,
including GPR56 gene. To date the only gene known to be associated with polymicrogyria is GPR56. Testing for GPR56-related bilateral frontoparietal polymicrogyria is available clinically. Mutations in GPR56 hinders Collagen III, its specific ligand, to bind in a developing brain. To date, a total of fourteen BFPP-associated mutations have been identified, including one deletion, two splicing, and eleven missense mutations. Two mutations in the GPCR proteolytic site (GPS) domain, C346S and W349S, cause a brain malformation through trapping the mutated proteins in the endoplasmic reticulum.GPR56 are a part of the B class of the GPCR family, the largest cell surface gene family in the human genome. Within this family there are different types of bio-active molecules that transduce their signal to the intracellular compartment via interaction with this type of receptor. Children often present with developmental delay, spasticity, or seizures; they are also often microcephalic. Some patients with polymicrogyria go undiagnosed until they produce children with the disorder who have more severe manifestations.
Supernumerary phantom limb is a condition where the affected individual believes and receives sensory information from limbs of the body that do not actually exist, and never have existed, in contradistinction to phantom limbs, which appear after an individual has had a limb removed from the body and still receives input from it. An fMRI study of a subject with a supernumerary phantom left arm was done by Khateb et al. at the Laboratory of Experimental Neuropsychology at the University of Geneva. When the subject was told to touch her right cheek with the phantom limb, there was increased activity in the motor cortex of her brain in the area roughly corresponding to the left arm. When she announced that she had touched the phantom limb to her cheek, activity was monitored in the area of the somatosensory cortex that corresponded to the right cheek. At times during the experiment, the subject was asked to move the phantom limb to a location that was obstructed or otherwise unfeasible. In these instances, there was similar activation of the motor cortex but no such activity in the somatosensory cortex. Affected areas of the brain
Motor cortex
Somatosensory cortex
Tactile (touch) controlling areas

See also
Body integrity identity disorder (BIID)
Supernumerary body part – having an extra limb

References

McGeoch, P.D. et al. (2009). Apotemnophilia – the neurological basis of a ‘psychological’ disorder. Nature Precedings DOI: 10101/npre.2009.2954.1.