Seckel syndrome
Updates to Article Attributes
Body
was changed:
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
Epidemiology
The estimated incidence is ~ 1:10,000. There is no recognised gender predilection.
Clinical featurespresentation
It is clinically characterised by many features including
- intrauterine growth restriction (IUGR)
- postnatal growth delay
- microcephaly 7
- mental retardation
- facial dysmorphisms
- micrognathia
- recessed forehead
- large beaked nose
Pathology
It is considered a type of primordial dwarfism.
Genetics
The abnormal genes have been mapped to two loci on chromosomes 3q and 18p7-8.
Associations
- congenital brain malformations
- intracranial aneurysms
Radiographic features
May show any of the of the clinical features shown above. Additional skeletal features may include:
- ivory epiphyses 3
- cone-shaped epiphyses in the proximal phalanges 3.
- absent thumb
Etymology
Named afterHelmut Paul George Seckel,American (US) physician (1900-1960).
-<p><strong>Seckel syndrome</strong> is an autosomal recessive congenital dwarfing disorder.</p><h4>Epidemiology</h4><p>The estimated incidence is ~ 1:10,000. There is no recognised gender predilection.</p><h4>Clinical features</h4><p>It is clinically characterised by many features including</p><ul>-<li><a href="/articles/intra-uterine-growth-restriction-2">intrauterine growth restriction (IUGR)</a></li>- +<p><strong>Seckel syndrome</strong> is an autosomal recessive congenital dwarfing disorder.</p><h4>Epidemiology</h4><p>The estimated incidence is ~ 1:10,000. There is no recognised gender predilection.</p><h4>Clinical presentation</h4><p>It is clinically characterised by many features including</p><ul>
- +<li><a href="/articles/intrauterine-growth-restriction">intrauterine growth restriction (IUGR)</a></li>
-</ul><h4>Pathology</h4><p>It is considered a type of <a href="/articles/primordial-dwarfism">primordial dwarfism</a>. </p><h5>Genetics</h5><p>The abnormal genes have been mapped to two loci on chromosomes 3q and 18p <sup>7-8</sup>.</p><h5>Associations</h5><ul>- +</ul><h4>Pathology</h4><p>It is considered a type of <a href="/articles/primordial-dwarfism">primordial dwarfism</a>. </p><h5>Genetics</h5><p>The abnormal genes have been mapped to two loci on chromosomes 3q and 18p <sup>7-8</sup>.</p><h5>Associations</h5><ul>
-<li><a href="/articles/intracranial-aneurysms">intracranial aneurysms </a></li>- +<li><a href="/articles/intracranial-aneurysms">intracranial aneurysms </a></li>
-</ul><h4>Etymology</h4><p>Named after <strong>Helmut Paul George Seckel</strong>,<strong> </strong>American (US) physician (1900-1960).</p>- +</ul><h4>Etymology</h4><p>Named after <strong>Helmut Paul George Seckel</strong>,<strong> </strong>American (US) physician (1900-1960).</p>
Unable to process the form. Check for errors and try again.