Fryns-Aftimos syndrome

Fryns-Aftimos syndrome, also known as Baraitser-Winter syndrome 1 or BWS1, is a rare chromosomal condition associated with pachygyria, severe intellectual disability, epilepsy and characteristic facial features. It is a malformation syndrome marked by numerous facial dysmorphias, including hypertelorism, iris or retinal coloboma, cleft lip and congenital heart defects. The syndrome has been seen in about 30 unrelated people. It is characterized by a de novo mutation on chromosome 7p22, so there is typically no family history before onset, and the severity of the disorder can be judged from the size of the deletion, which takes in the ACTB gene and surrounding genes, consistent with a contiguous gene deletion syndrome. A diagnosis is typically confirmed by serial single-gene testing, a multigene panel or exome sequencing.