<unk>  (also known as Baraitser-Winter Syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. This syndrome is a malformation syndrome, characterized by numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. This syndrome has been seen in 30 unrelated people. Characterized by a de novo mutation located on chromosome 7p22, there is typically no family history prior to onset. The severity of the disorder can be determined by the size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming a diagnosis of<unk>  typically consists of serial single-gene testing or multigene panel of genes of interest or exome sequencing.
Fryns-Aftimos syndrome
Yunis–Varon syndrome
Helsmoortel-Van der Aa syndrome
CAMFAK syndrome
Townes–Brocks syndrome
Teunissen–Cremers syndrome
Pretzel syndrome
Cortes Lacassie syndrome