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Studies in model organisms, primarily in the mouse, the most prominent genetically tractable mammalian model, have equipped us with a rudimentary understanding of mammalian development from early lineage commitment to morphogenetic processes. In this way, information provided by studies in the mouse can, in some cases, be used to draw parallels with other mammals, including human. Here, we provide an overview of our current understanding of the general sequence of developmental events from early cell cleavages to gastrulation and axis extension occurring in human embryos. We will also review some of the rare birth defects occurring at these stages, in particular those resulting in conjoined twinning or caudal dysgenesis. <jats:italic>WIREs Dev Biol<\/jats:italic> 2012, 2:427\u2013442. doi: 10.1002\/wdev.97<\/jats:p><jats:p>This article is categorized under:\n<jats:list list-type=\"explicit-label\">\n<jats:list-item><jats:p>Establishment of Spatial and Temporal Patterns &gt; Cell Sorting and Boundary Formation<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Establishment of Spatial and Temporal Patterns &gt; Regulation of Size, Proportion, and Timing<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Signaling Pathways &gt; Cell Fate Signaling<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>Birth Defects &gt; Associated with Preimplantation and Gastrulation<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>","DOI":"10.1002\/wdev.97","type":"journal-article","created":{"date-parts":[[2012,11,27]],"date-time":"2012-11-27T03:17:15Z","timestamp":1353986235000},"page":"427-442","source":"Crossref","is-referenced-by-count":40,"title":["Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis"],"prefix":"10.1002","volume":"2","author":[{"given":"Anna","family":"Ferrer\u2010Vaquer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna\u2010Katerina","family":"Hadjantonakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,26]]},"reference":[{"key":"e_1_2_7_1_2_1","first-page":"560","volume-title":"The Developing Human: Clinically Oriented Embryology","author":"Moore 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