- Concept UI
- M0028709
- Scope Note
- 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)
- Terms
-
Branchio-Oto-Renal Syndrome
Preferred Term
Term UI
T057442
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
BOR Syndrome
Term UI
T057441
Date11/29/1995
LexicalTag
NON
ThesaurusID
-
Branchio-Otorenal Dysplasia
Term UI
T057443
Date11/29/1995
LexicalTag
NON
ThesaurusID
-
Branchio-Otorenal Syndrome
Term UI
T057444
Date11/29/1995
LexicalTag
NON
ThesaurusID
-
Branchiootorenal Dysplasia
Term UI
T845616
Date06/13/2013
LexicalTag
NON
ThesaurusID
-
Melnick-Fraser Syndrome
Term UI
T845620
Date06/13/2013
LexicalTag
NON
ThesaurusID