Aymé-Gripp Syndrome (AYGRP)

Aymé-Gripp syndrome (AGS), also known as Brachycephaly-deafness-cataract-intellectual disability syndrome, is a rare autosomal dominant disorder caused by mutations in the MAF gene. It is characterized by congenital cataracts, sensorineural deafness, distinctive facial features resembling Down syndrome, and neurodevelopmental abnormalities. First described in the 1990s and named in 2015, AGS affects less than 1 in a million individuals. Diagnosis relies on genetic testing, while management involves personalized treatments for symptoms such as hearing loss, cataracts, developmental delays, and skeletal abnormalities. Further research is needed to fully understand the syndrome’s genetic and phenotypic spectrum.