Bardet-Biedl syndrome
Disclosures
- updated 10 May 2022:
Nothing to disclose
Updates to Article Attributes
Body
was changed:
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
Clinical presentation
The clinical spectrum includes:
retinal anomalies: similar to that of retinitis pigmentosa
intellectual disability
renal structural anomalies
polydactyly: often post-axial 4
obesity: often truncal
hypogonadism: in males
History and etymology
It is named after:
Arthur Biedl (1869-1933): Romano-Hungarian pathologist
Georges Bardet: French physician
-<p><strong>Bardet-Biedl syndrome (BBS)</strong>, previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.</p><h4>Clinical presentation</h4><p>The clinical spectrum includes:</p><ul>-<li>retinal anomalies: similar to that of <a href="/articles/retinitis-pigmentosa">retinitis pigmentosa</a>-</li>-<li>intellectual disability</li>-<li>renal structural anomalies </li>-<li>-<a href="/articles/polydactyly">polydactyly</a>: often post-axial <sup>4</sup>-</li>-<li>obesity: often truncal</li>-<li>hypogonadism: in males</li>- +<p><strong>Bardet-Biedl syndrome (BBS)</strong>, previously known as the <strong>Laurence-Moon-Bardet-Biedl syndrome (LMBBS)</strong>, is a rare autosomal recessive hereditary condition.</p><h4>Clinical presentation</h4><p>The clinical spectrum includes:</p><ul>
- +<li><p>retinal anomalies: similar to that of <a href="/articles/retinitis-pigmentosa">retinitis pigmentosa</a></p></li>
- +<li><p>intellectual disability</p></li>
- +<li><p>renal structural anomalies </p></li>
- +<li><p><a href="/articles/polydactyly">polydactyly</a>: often post-axial <sup>4</sup></p></li>
- +<li><p>obesity: often truncal</p></li>
- +<li><p>hypogonadism: in males</p></li>
-<li>-<strong>Arthur Biedl</strong> (1869-1933): Romano-Hungarian pathologist </li>-<li>-<strong>Georges Bardet</strong>: French physician</li>- +<li><p><strong>Arthur Biedl</strong> (1869-1933): Romano-Hungarian pathologist </p></li>
- +<li><p><strong>Georges Bardet</strong>: French physician</p></li>
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