Brankio-oto-renalsyndrom
En autosomal, dominant störning kännetecknad av olika kombinationer av gropar framför öronen, fistlar eller cystor på halsen, förträngning av tårkanalen, hörselbortfall, defekter i ytter-, mellan- ell er innerörat och missbildningar i njurarna. Astenisk kroppsform, långsmalt ansikte, överbett och närsynthet är andra defekter. Syn. BOR-syndrom, brankio-oto-renal dysplasi, brankiootiskt syndrom, Meln ick-Frasersyndrom.
Förklaring på engelska
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski’s Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Synonym, svenska:
Synonym, engelska: Branchio Oto Renal Syndrome; Melnick-Fraser Syndrome; Melnick Fraser Syndrome; Branchio-Otorenal Syndrome; Branchiootorenal Dysplasia; Dysplasia, Branchiootorenal; BOR Syndrome; Branchio-Otorenal Dysplasia; Branchiootorenal Syndrome 2; Branchiootorenal Syndrome 1; Branchio-Oculo-Facial Syndrome; Branchio Oculo Facial Syndrome; Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging; Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome; Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome; Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome; Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome; Lee Root Fenske Syndrome; BOF Syndrome; Syndrome, BOF; Branchiooculofacial Syndrome
| Svensk term | Brankio-oto-renalsyndrom |
| Synonym på svenska | |
| Synonym på engelska | Branchio Oto Renal Syndrome; Melnick-Fraser Syndrome; Melnick Fraser Syndrome; Branchio-Otorenal Syndrome; Branchiootorenal Dysplasia; Dysplasia, Branchiootorenal; BOR Syndrome; Branchio-Otorenal Dysplasia; Branchiootorenal Syndrome 2; Branchiootorenal Syndrome 1; Branchio-Oculo-Facial Syndrome; Branchio Oculo Facial Syndrome; Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging; Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome; Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome; Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome; Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome; Lee Root Fenske Syndrome; BOF Syndrome; Syndrome, BOF; Branchiooculofacial Syndrome |
| Engelsk term | Branchio-Oto-Renal Syndrome |
| MESH ID | D019280 |