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DeCS
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Descriptor English:
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Branchio-Oto-Renal Syndrome
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Descriptor Spanish:
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Síndrome Branquio Oto Renal
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Descriptor Portuguese:
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Síndrome Brânquio-Otorrenal
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Synonyms English:
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Branchio-Oculo-Facial Syndrome
Branchio-Otorenal Dysplasia
BOR Syndrome
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Tree Number:
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C16.131.077.208
C16.131.260.090
C16.320.180.090
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Definition English:
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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) |
Indexing Annotation English:
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multiple abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: note short X ref
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History Note English:
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97
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Allowable Qualifiers English:
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Record Number:
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32954
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Unique Identifier:
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D019280
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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