Campomelic Dysplasia or Campomelic Syndrome is an intersex condition that effects 1 in 40,000 to 200,000 people in which ones reproductive system, bone structure, and genitals are developed oddly, underdeveloped, or extremely misplaced. This condition is known as the most dangerous intersex conditions, as 95% of cases end in death during infancy. This condition can effect both AMAB and AFAB individuals.
Those with this condition usually have short legs, dislocated hips, underdeveloped shoulder blades, eleven ribs instead of the usual twelve, neck abnormalities, upward-turning feet, a small chin, prominent eyes, a flat face, and a larger head than usual. They may also have laryngotracheomalacia, which causes issues with breathing, and is the main cause of death within those with this condition. They may or may not be born with bent or bowed limbs, however the rest of the symptoms usually still apply regardless.
Among AMAB individuals, 75% of individuals with this condition are born with ambiguous genitals or a vagina, despite their XY chromosomes. Among both AMAB and AFAB individuals, they can have either a male reproductive system, a female reproductive system, or a combination (ovotesticular.)
Those who survive with this condition often grow up to have scoliosis, hearing issues, and mental disabilities.
Causes
This condition is most often caused when ones SOX9 gene is mutated. This gene usually regulates protein production, and if it does not work properly, the protein may be overproduced or underproduced, causing physical abnormalities when one is still in the fetus stage.
Etymology
The term campomelic comes from the Greek words for "bent limb."