A rare disease that causes extra toes has been identified

Scientists at the University of Leeds have identified a rare condition that causes newborn babies to have extra fingers and toes, as well as various birth defects. According to the study, published in The American Journal of Human Genetics, the anomaly is caused by a genetic mutation in the MAX gene.

The researchers compared the DNA of three people with a rare combination of physical traits, namely polydactyly and macrocephaly, when the head circumference is much larger than average. It turned out that they all had alterations in the Myc-associated factor X (MAX) gene, which is a transcription factor and is involved in the regulation of cell function.