Barber Say Syndrome

Barber Say Syndrome (BSS) is a syndrome that may or may not be considered intersex, depending on who you ask. Some may consider this syndrome to be a cause for intersex traits, rather than an intersex variation in of itself. This syndrome can effect both CTM and CTF individuals alike, and has no more than twenty case reports, showing its rarity.

Amongst CTM individuals with BSS, shawl scrotums may occur, along with other penile abnormalities. Amongst CTF individuals with BSS, vaginal abnormalities may occur as well.

Common symptoms for individuals with BSS include nasal abnormalities, a bulbous nose, a wide mouth, a small lower lip, delayed teeth growth, a turned out eyelid or absent eyelids, widely spaced eyes, sparse or absent eyelashes, absent or sparse eyebrows, abnormally shaped ears, low set ears, thin skin, low weight gain, excessive body hair upon birth (especially on the back), small nipples and/or absent nipples, and absent breasts. They may also be deaf or have hearing issues.

This syndrome is very similar to Ablepharon Macrostomia Syndrome.

BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds specific types of DNA. Mutations in the TWIST2 gene alter DNA-binding activity, and could explain many of the phenotypes of BSS.