Camptodactyly
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Camptodactyly is a clinical or imaging descriptive term where there is a flexion contracture (usually congenital) classically at the proximal inter-phalangeal (PIP)interphalangeal joint.
Clinical presentation
The age of presentation can vary from being detected in utero in an antenatal scan or as a obvious deformity after birth or in childhood.
Pathology
There is often thought to be an abnormal insertion of the lumbrical or flexor digitorum tendons into the hand.
Genetics
It can occur sporadically or with an autosomal dominant inheritance.
Associations
While it can occur in isolation, there are numerous associations with the presence of camptodactyly (especially if detected in obstetric imaging).
They include
Aneuploidic syndromic:
- aneuploidy syndromes 3
Non aneuploidic syndromic
- Freeman Sheldon syndrome
- Pena Shokeir syndrome 5
- camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome 2
Other
-<p><strong>Camptodactyly</strong> is a clinical or imaging descriptive term where there is a flexion contracture (usually congenital) classically at the proximal inter-phalangeal (PIP) joint.</p><p>Clinical presentation</p><p>The age of presentation can vary from being detected in utero in an antenatal scan or as a obvious deformity after birth or in childhood.</p><p>Pathology</p><p>There is often thought to be an abnormal insertion of the lumbrical or flexor digitorum tendons into the hand.</p><p>Genetics</p><p>It can occur sporadically or with an autosomal dominant inheritance.</p><p>Associations</p><p>While it can occur in isolation, there are numerous associations with the presence of camptodactyly (especially if detected in obstetric imaging). </p><p>They include</p><p>Aneuploidic syndromic</p><ul>-<li>-<a href="/articles/edwards-syndrome-1">trisomy 18</a> <sup>3</sup>-</li>-<li>-<a href="/articles/patau-syndrome">trisomy 13</a> <sup>3</sup>- +<p><strong>Camptodactyly</strong> is a clinical or imaging descriptive term where there is a flexion contracture (usually congenital) classically at the <a title="proximal interphalangeal joint" href="/articles/proximal-interphalangeal-joint">proximal interphalangeal joint</a>.</p><h4>Clinical presentation</h4><p>The age of presentation can vary from being detected in utero in an antenatal scan or as a obvious deformity after birth or in childhood.</p><h4>Pathology</h4><p>There is often thought to be an abnormal insertion of the lumbrical or flexor digitorum tendons into the hand.</p><h5>Genetics</h5><p>It can occur sporadically or with an autosomal dominant inheritance.</p><h5>Associations</h5><p>While it can occur in isolation, there are numerous associations with the presence of camptodactyly (especially if detected in obstetric imaging):</p><ul>
- +<li>aneuploidy syndromes <sup>3</sup><ul>
- +<li><a href="/articles/edwards-syndrome-1">trisomy 18</a></li>
- +<li><a href="/articles/patau-syndrome">trisomy 13</a></li>
- +</ul>
-</ul><p>Non aneuploidic syndromic</p><ul>- +<li>non aneuploidy syndromes<ul>
-</ul><p>Other</p><ul><li>conditions causing an <a href="/articles/arthrogryposis">arthrogryposis</a>-</li></ul>- +</ul>
- +</li>
- +<li>other conditions causing an <a href="/articles/arthrogryposis">arthrogryposis</a>
- +</li>
- +</ul>
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