Zusammenfassung
Angeborene Handfehlbildungen sind durch ein breites Spektrum an phänotypischen Manifestationen gekennzeichnet. Sie treten als isolierte Malformation oder als Teil verschiedener Syndrome auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und der hohen Belastung für Betroffene erhebliche klinische Relevanz. Die fortschreitende Erkenntnis über die molekularen Mechanismen der Embryonalentwicklung haben in den letzten Jahren wesentlich dazu beigetragen, die genetischen Ursachen kongenitaler Malformationen besser zu verstehen. Der hohe Grad an phänotypischer Variabilität kongenitaler Handfehlbildungen erschwert jedoch eine Etablierung präziser Genotyp-Phänotyp-Korrelationen. In diesem Übersichtsartikel präsentieren wir das Spektrum kongenitaler Malformationen, basierend auf einer entwicklungsbiologischen, anatomischen und genetischen Klassifikation unter Berücksichtigung der Bedeutung neuerer molekularer und entwicklungsbiologischer Erkenntnisse.
Abstract
Congenital limb malformations exhibit a wide spectrum of phenotypic manifestations and may occur as an isolated malformation and as part of a syndrome. They are individually rare, but due to their overall frequency and severity they are of clinical relevance. In recent years, increasing knowledge of the molecular basis of embryonic development has significantly enhanced our understanding of congenital limb malformations. In addition, genetic studies have revealed the molecular basis of an increasing number of conditions with primary or secondary limb involvement. The molecular findings have led to a regrouping of malformations in genetic terms. However, the establishment of precise genotype-phenotype correlations for limb malformations is difficult due to the high degree of phenotypic variability. We present an overview of congenital limb malformations based on an anatomic and genetic concept reflecting recent molecular and developmental insights.
Schlüsselwörter
Angeborene Handfehlbildungen - Genetik - Embryologie - Syndaktylie - Polydaktylie - Brachydaktylie
Key words
Limb development - malformation - syndactyly - polydactyly - brachydactyly - genetics
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Prof. Dr. med. Stefan Mundlos
Institut für Medizinische Genetik
Humboldt-Universität, Charité
Augustenburger Platz 1
13353 Berlin
Germany
eMail: stefan.mundlos@charite.de
