Fryns–Aftimos syndrome
| Fryns–Aftimos syndrome | |
|---|---|
| Other names | Baraitser–Winter syndrome 1 (BWS1), cerebro-oculo-facial-lymphatic syndrome, chromosome 7p22 deletion syndrome |
| Photo of the patient with Baraitser–Winter syndrome with highly arched eyebrow, anteverted nares, long philtrum, ptosis, thin upper lip, retrognathia, epicanthal fold, hypertelorism, and wide nasal bridge. In picture C bilateral coloboma can also be seen. | |
| Specialty | Medical genetics |
| Causes | De novo mutation, autosomal dominant |
| Diagnostic method | Serial single-gene testing, multigene panel, exome sequencing |
| Prognosis | Poor with severe brain abnormalities, but milder cases can reach dependent adulthood |
| Frequency | Rare: fewer than 50 cases reported in medical literature |
Fryns–Aftimos syndrome (also known as Baraitser–Winter syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe intellectual disability, 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 Fryns–Aftimos syndrome typically consists of serial single-gene testing or multigene panel of genes of interest or exome sequencing.