Chromosome 18 Ring is a syndrome that - in some cases - may be considered an intersex variation, although many would say it causes intersex traits rather than being one in of itself. This syndrome is seemingly rare, with no known estimates. This syndrome can cause a missing or undescended testicle, a micropenis, and/or hypospadias in CTM/AMAB individuals. CTF/AFAB individuals with this syndrome tend to have labial hypoplasia (one or both labia missing.)
This syndrome often comes with low muscle tone, strabismus, hearing loss, undersized kidneys, foot abnormalities, scoliosis, rib-cage abnormalities, umbilical and inguinal hernias, and brain defects that often lead one to fall on the autism spectrum. Some of these symptoms may classify one with this syndrome as physically disabled.[1]
Causes
This syndrome is caused when there is a defect, loss, or deletion in the 18th chromosome, which causes the ending of other chromosomes to form a ring. This chromosomal abnormality causes the formation during the fetal stage to change, and causes development to be different than usual. This could affect all cells, however it usually only affects a small handful of them.
History
This syndrome was first reported in 1964.[2]