Jan 17, 2018 · Learn about Branchiootorenal Spectrum Disorders, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD.

Mar 19, 1999 · Branchiootorenal spectrum disorder comprises branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS), two phenotypes that differ only by the presence or absence of renal abnormality.

Branchio-oto-renal (BOR) syndrome, also known as Melnick-Fraser syndrome, is a congenital (present at birth) condition characterized by branchial arch malformations. Sometimes, it may not be noticeable at birth but will appear later on.

Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. Explore symptoms, inheritance, genetics of this condition.

Oct 1, 2022 · A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

Diagnostic criteria for BOR have been established (196). The association of HL and preauricular pits without other findings of BOR has been called branchio-otic syndrome (BO or BOS), which represents a variant of BOR in which renal disease is absent.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant condition characterized by hearing loss, and branchial, otic and renal anomalies. Branchial arch defects include cysts and fistulae.

Disorder: Branchiootorenal (BOR/BOS) spectrum disorder is characterized by malformations of the external, middle and/or inner ear, branchial clefts or cysts, hearing loss which may be of sensorineural, conductive or mixed types, and, in some patients, renal malformations of …

May 1, 2015 · Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families.

Sep 23, 2021 · “Branchio” refers to the second branchial arch, which gives rise to the front and sides of the neck during fetal development; “oto” refers to the ears; and “renal” refers to the kidneys. When the kidneys are not involved, the syndrome is termed Branchiootic Syndrome.