Opitz G/BBB Syndrome

The Opitz G/BBB Syndrome flag.

Opitz G/BBB syndrome 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. Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 CTM or AMAB individuals, although it is likely that this syndrome is underdiagnosed.

This syndrome can cause a missing or undescended testicle, hypospadias, an underdeveloped scrotum, and/or a scrotum divided into two lobes. This may cause urinal issues.

This syndrome often comes with defects in the voice box, windpipe, or esophagus which, in many cases, causes breathing and swallowing abnormalities that can, in some cases, be life threatening. This syndrome often comes with distinct facial features, such as a prominent forehead, a thin upper lip, low ears, and a flat nasal bridge.

Studies have shown that 50% of individuals with this syndrome are on the autism spectrum and have mental disabilities. This often causes a delay in speech and motor skills, as well as learning disabilities. 50% also tend to have a cleft lip or cleft palate. In some rarer cases, heart defects, anal obstruction, and/or absencies between the left and right side of the brain are found, which could classify one with this variation as physically disabled.

Causes

This syndrome can be caused by two things; mutations in the MID1 gene (a gene that provides instructions for making midline-1, which is a protein that binds microtubules) or changes/mutations in chromosome 22, which may include the entire deletion of the chromosome in of itself.

There are some rare cases where neither of these reasons apply, and in those cases it is unknown what causes the syndrome.

Flag

The Opitz G/BBB Syndrome flag was coined by Reign of the breadsticcs on May 7th of 2021. It has no confirmed meaning.