Carpenter syndrome
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Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder
Clinical spectrum
It is characterized by number of features which include:
- craniofacial malformations
- craniosynostoses
- kleeblattschädel (cloverleaf skull)
- obesity
syndactyly: typically soft tissue3-
polydactyly: typically pre axial3 - umbilical herniation
- hypogenitalism
- cryptorchidism
- mental retardation
- limb anomalies
- genu valgum +/- lateral patella displacement
- coxa valga
- pes varus
- syndactyly: typically soft tissue 3
- polydactyly: typically pre axial 3
double ossification center of proximal phalanx of thumb
broad first metatarsal
Historical context
First described by G Carpenter in 1909 2.
See also
-<li>craniofacial malformations<ul><li><a href="/articles/craniosynostosis">craniosynostoses</a></li></ul>-</li>-<li>obesity</li>- +<li>craniofacial malformations<ul>
- +<li><a href="/articles/craniosynostosis">craniosynostoses</a></li>
-<a href="/articles/syndactyly">syndactyly</a>: typically soft tissue <sup>3</sup>- +<a href="/articles/cloverleaf-skull">kleeblattschädel</a> (cloverleaf skull)</li>
- +</ul>
-<li>-<a href="/articles/polydactyly">polydactyly</a>: typically pre axial <sup>3</sup>-</li>-<li><a href="/articles/congenital-cardiovascular-anomalies">congenital cardiac anomalies</a></li>- +<li>obesity</li>
- +<li><p><a href="/articles/congenital-cardiovascular-anomalies">congenital cardiac anomalies</a></p></li>
-<li>limb anomalies<ul><li>-<a href="/articles/genu-valgum">genu valgum </a>+/- lateral patella displacement</li></ul>- +<li>limb anomalies<ul>
- +<li>
- +<a href="/articles/genu-valgum">genu valgum </a>+/- lateral patella displacement</li>
- +<li><a href="/articles/coxa-valga">coxa valga</a></li>
- +<li><a href="/articles/pes-varus">pes varus</a></li>
- +<li>
- +<a href="/articles/syndactyly">syndactyly</a>: typically soft tissue <sup>3</sup>
- +</li>
- +<li>
- +<a href="/articles/polydactyly">polydactyly</a>: typically pre axial <sup>3</sup>
- +</li>
- +<li><p>double ossification center of proximal phalanx of thumb</p></li>
- +<li><p>broad first metatarsal</p></li>
- +</ul>
References changed:
- 7. Schumacher R, Seaver LH, Spranger J. Fetal Radiology. Springer Science & Business Media. (2013) ISBN:3662053748. <a href="http://books.google.com/books?vid=ISBN3662053748">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/3662053748">Find it at Amazon</a><span class="auto"></span>
Sections changed:
- Syndromes
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