Börjeson-Forssman-Lehmann Syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability, obesity, seizures, failure of the testes in males or the ovaries in females to produce hormones, tapered fingers, foreshortened toes, and distinctive facial features, including large ears and prominent eyebrows. Affected infants often experience hypotonia, struggles with feeding, and delays in reaching developmental milestones. The exact symptoms vary from case to case, even among members of the same family. BFLS is caused by disruptions or mutations of the PHF6 gene on the X chromosome. Function of the PHF6 protein and molecular pathogenesis of BFLS is not known.

When discussing similarities and differences amongst other families who have been affected by BFLS, some other areas of concern have been severe sleep apnea, eyesight issues, including nystagmus and strabismus, recurrent UTIs, and dental concerns.

To learn more about BFLS, visit the links below.

References: https://rarediseases.org/rare-diseases/borjeson-forssman-lehman-syndrome/

https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome