ATR-16 Syndrome is a condition that - in some cases - may be considered an intersex condition, although many would say it causes intersex conditions rather than being one in of itself. It effects both CTM and CTF individuals alike. It is unknown how common it is.
This condition can cause a missing or undescended testicles and/or hypospadias in CTM individuals, while it can cause vaginal abnormalities (such as the fusion of the vaginal lips) in CTF individuals.
This condition often comes with mental defects that cause a lack of development in speech and motor skills. It also often comes with a unique physical features and conditions, such skinfolds on the eyes, arched eyebrows, small nostrils, slanted-down eyes, widely spaced eyes, long eyelashes, usually shaped/positioned ears, a naevus flammeus birthmark, an unusually small head, a small neck, and/or hand and feet anomalies.
Harmful medical conditions that may come along with this condition include heart conditions, an underdeveloped lung, urinary tract infections, a cavity within the spinal cord, and seizures.
Some with this condition also have Rubinstein-Taybi Syndrome.
Causes
This condition is caused by a genetic deletion within specific genes in chromosome 16. This deletion causes one of three segments of genes to be terminated, and the surviving two genes latch onto one another, causing genetic abnormalities.
Resources
- https://rarediseases.org/rare-diseases/atr-16-syndrome/
- https://en.wikipedia.org/wiki/ATR-16_syndrome
- https://wa.kaiserpermanente.org/kbase/topic.jhtml?docId=nord1218
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288322/
- https://www.rarechromo.org/media/information/Chromosome%2016/16p13%20deletions%20FTNP.pdf