IllnessBranchio-oto-renal syndrome, differential diagnosis

NGS +

Branchiootorenal syndrome (BOR) causes malformations of the ears and kidneys. The symptoms of this veritable spectrum of BOR vary widely, even among members of the same family. Branchiooto syndrome has many of the same features as BOR syndrome, but without kidney abnormalities. Some affected individuals have lateral fistulas in the neck just above the collarbone that open in the mouth near the tonsils. Most patients also have hearing loss and other ear abnormalities. The hearing loss may be sensorineural or mixed, and some affected individuals have preauricular dimples or appendages. Renal abnormalities range from mild to severe and may affect both kidneys. In some cases, end-stage renal disease develops later in life. Mutations in the EYA1, SIX1 and SIX5 genes cause the syndrome. About 40% of patients have a mutation in the EYA1 gene. SIX1 mutations are much rarer, and SIX5 mutations are really seldomly detected. The syndrome is mostly inherited in an autosomal dominant manner, a few remaining cases are due to new mutations in the aforementioned genes. Since the molecular genetic diagnostic yield is only about 50%, a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1380/

• Alias: BOR
• Alias: Bor-Syndrom
• Alias: Branchio-oto-renal syndrome
• Alias: Branchio-otorenal dysplasia
• Alias: Branchio-otorenal syndrome
• Alias: Branchiootic syndrome
• Alias: Branchiootorenal dysplasia
• Alias: Branchiootorenal spectrum disorders
• Alias: Branchiootorenal syndrome
• Alias: Melnick-Fraser syndrome (EYA1)
• Allelic: Anterior segment anomalies with/-out cataract (EYA1)
• Allelic: Deafness, AD 23 (SIX1)
• Branchiootic syndrome 1 (EYA1)
• Branchiootic syndrome 3 (SIX1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• Otofaciocervical syndrome (EYA1)
• bor