Branchio-oto-renal dysplasia
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Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterised by:
- otic malformations
- can involve the outer, middle, and inner ear associated withconductive, sensorineural, or mixed hearing impairment
- preauricular pits
- branchialfistulae and branchial cleft cysts
- renal malformations: can range from mild renalhypoplasia to bilateral renal agenesis
.
Pathology
Genetics
It carries an autosomal dominant inheritance. Most families with the BOR syndrome have mutations on the EYA-1 gene on chromosome 8q.
Prognosis
Some individuals progress toend-stage renal disease (ESRD) later in life.
-<p><strong>Branchio-oto-renal (BOR) dysplasia</strong> is a rare syndromic disorder characterised by</p><ul>-<li>otic malformations <ul>-<li>can involve the outer, middle, and inner ear associated with-conductive, sensorineural, or mixed hearing impairment</li>- +<p><strong>Branchio-oto-renal (BOR) dysplasia</strong> is a rare syndromic disorder characterised by:</p><ul>
- +<li>otic malformations<ul>
- +<li>can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment</li>
-<a href="/articles/branchial-fistulae" title="branchial fistulae">branchial-fistulae</a> and cysts - <a href="/articles/branchial-cleft-cysts" title="branchial cleft cysts">branchial cleft cysts</a>- +<a href="/articles/branchial-fistulae">branchial fistulae</a> and <a href="/articles/branchial-cleft-cysts">branchial cleft cysts</a>
-<li>renal malformations : can range from mild renal-hypoplasia to bilateral <a href="/articles/renal-agenesis" title="Renal agenesis">renal agenesis</a>. </li>-</ul><h4>Pathology</h4><h5>Genetics</h5><p>It carries an autosomal dominant inheritance. Most families with the BOR syndrome have mutations on the EYA-1 gene on chromosome 8q</p><h4>Prognosis</h4><p>Some individuals progress to-end-stage renal disease (ESRD) later in life</p>- +<li>renal malformations: can range from mild renal hypoplasia to bilateral <a href="/articles/renal-agenesis">renal agenesis</a>
- +</li>
- +</ul><h4>Pathology</h4><h5>Genetics</h5><p>It carries an autosomal dominant inheritance. Most families with the BOR syndrome have mutations on the EYA-1 gene on chromosome 8q.</p><h4>Prognosis</h4><p>Some individuals progress to end-stage renal disease (ESRD) later in life.</p>
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