The face is the anatomical feature which is truly unique to each human, though the basis of its general development is identical for all humans and similar to that seem for other species. The face has a complex origin arising from a number of head structures and sensitive to a number of teratogens during critical periods of its development. The related structures of upper lip and palate significantly contribute to the majority of face abnormalities. This page introduces the topic of face formation and links to a series of pages covering normal and abnormal development during the embryonic and fetal periods.
(More? Face Development 16 to 18)
Page Links: Introduction | Some Recent Findings | Reading | Development Overview | Serial Images | Abnormalities |WWW Links | References | Glossary
Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling. Thomason HA, Dixon MJ, Dixon J. Dev Biol. 2008 Sep 1;321(1):273-82.
"In humans, mutations in TP63 have been identified in five distinct human developmental disorders that are characterized by limb abnormalities, ectodermal dysplasia, and facial anomalies. Our results are consistent with a role for Tp63 in the regulation of Bmp signaling controlling the growth, modelling and fusion events underlying facial development and shed new light on the complex abnormality of facial clefting."
Signaling through Tgf-beta type I receptor Alk5 is required for upper lip fusion. Li WY, Dudas M, Kaartinen V. Mech Dev. 2008 Sep-Oct;125(9-10):874-82.
"We show that Alk5/Nes-Cre mutants display incompletely penetrant unilateral or bilateral cleft lip. Increased cell death seen in the medial nasal process and the maxillary process may explain the hypoplastic maxillary process observed in mutants. The resultant reduced contact is insufficient for normal lip fusion leading to cleft lip."
RNA interference of Bmp-4 and midface development in postimplantation mouse embryos. Shuman JB, Gong SG. Am J Orthod Dentofacial Orthop. 2007 Apr;131(4):447.e1-11.
"Reduced BMP-4 levels caused prefusion delays in the outgrowth of the lateral and medial nasal processes. These processes later recovered, producing no detectable long-term morphological differences when compared with the control embryos."
Comparative morphometrics of embryonic facial morphogenesis: implications for cleft-lip etiology. Young NM, Wat S, Diewert VM, Browder LW, Hallgrímsson B. Anat Rec (Hoboken). 2007 Jan;290(1):123-39.
"Cleft lip (CL) with or without cleft palate (CL[P]) has a complex etiology but is thought to be due to either genetic or environmentally induced disruptions of developmental processes affecting the shape and size of the facial prominences (medial nasal, lateral nasal, and maxilla). ...These results suggest that the etiology of clefting differs in A/WySn and CL/Fr strains, with the former strain suffering disruptions to developmental processes affecting overall size (e.g., neural crest migration deficiencies and lower mitotic activity), while the latter strain has defects restricted to the shape and size of the maxilla."
Kurjak A, Azumendi G, Andonotopo W, Salihagic-Kadic A. Three- and four-dimensional ultrasonography for the structural and functional evaluation of the fetal face. Am J Obstet Gynecol. 2007 Jan;196(1):16-28. Epub 2006 Oct 2. Review.
Developmental Dynamics Special Issue: Craniofacial Development Special Issue Volume 235 Issue 5 - May 2006 (1151 - 1454)
Diewert VM, Wang KY. Recent advances in primary palate and midface morphogenesis research. Crit Rev Oral Biol Med. 1992;4(1):111-30. Review.
Diewert VM. Growth movements during prenatal development of human facial morphology. Prog Clin Biol Res. 1985;187:57-66. Review.
Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nat Rev Genet. 2001 Jun;2(6):458-68.
Richman JM, Lee SH. About face: signals and genes controlling jaw patterning and identity in vertebrates. Bioessays. 2003 Jun;25(6):554-68. Review.
Embryo Images Unit: Embryo Images Online : Craniofacial Development | Cell Populations | Pharyngeal Arches | Nose and Upper Lip
Human Embryology Movies: Development of the Face (451Kb)
Head and Neck Lectures: ANAT2300 Vertebrate Development- Head Development | ANAM1006 Head Development | ANAT1006 Medicine 2002- Head Development
Structures derived from Arches, Pouches, Grooves, Membranes
Major features to identify for each: arch, pouch, groove and membrane. Contribute to the formation of head and neck and in the human appear at the 4th week. The first arch contributes the majority of upper and lower jaw structures.
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malleus, incus |
ant lig of malleus, sphenomandibular ligament |
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(hyoid) |
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stapes, styloid process, lesser cornu of hyoid, upper part of body of hyoid bone |
stylohyoid ligament |
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greater cornu of hyoid, lower part of body of hyoid bone |
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thyroid, cricoid, arytenoid, corniculate and cuneform cartilages |
Each pouch is lined with endoderm and generates specific structures.
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tubotympanic recess |
tympanic membrane, tympanic cavity, mastoid antrum, auditory tube |
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intratonsillar cleft |
crypts of palatine tonsil, lymphatic nodules of palatine tonsil |
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inferior parathyroid gland, thymus gland |
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superior parathyroid gland, ultimobranchial body |
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becomes part of 4th pouch |
Only the first groove differentiates into an adult structure and forms part of the external acoustic meatus.
At the bottom of each groove lies the membrane which is formed from the contact region of ectodermal groove and endodermal pouch. Only the first membrane differentiates into an adult structure and forms the tympanic membrane.
Early Pharynx and Face Development | Head and Skull | Pharyngeal Arches | Abnormalities | Molecular Mechanisms
- chondrocranium forms base of skull
- in lower vertebrates encases brain
- cranial vault
- calveria
- facial skeleton
- pharyngeal arches
- branchial arch (Gk. branchia= gill)
- arch consists of all 3 trilaminar embryo layers
- ectoderm- outside
- mesoderm- core of mesenchyme
- endoderm- inside
- Contributions from all arches
- which changes with time
- begins as swelling rostral to foramen cecum
- median tongue bud
Wnt pathway - Wnt3 and Wnt9b, midfacial development and lip fusion.
Transcription factors - Tp63, regulation of Bmp signaling. LIM-homeodomain transcription factors LHX7, LHX6 and IRF6.
Growth Factors/Receptors - Tgf-beta type I receptor, in ectomesenchyme. Bmp-4, fusion in the midface. Fibroblast growth factor receptors (FGF-R1 and FGF-R2), may play a role in the epithelial-mesenchymal interactions.
Mechanisms
Epithelial-mesenchymal transformation (EMT) (More? Epithelial Mesenchymal Transition)
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Developmental Dynamics Special Issue: Craniofacial Development Special Issue Volume 235 Issue 5 - May 2006 (1151 - 1454)
Kurjak A, Azumendi G, Andonotopo W, Salihagic-Kadic A. Three- and four-dimensional ultrasonography for the structural and functional evaluation of the fetal face. Am J Obstet Gynecol. 2007 Jan;196(1):16-28. Epub 2006 Oct 2. Review.
Diewert VM, Wang KY. Recent advances in primary palate and midface morphogenesis research. Crit Rev Oral Biol Med. 1992;4(1):111-30. Review.
Diewert VM. Growth movements during prenatal development of human facial morphology. Prog Clin Biol Res. 1985;187:57-66. Review.
Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nat Rev Genet. 2001 Jun;2(6):458-68.
Richman JM, Lee SH. About face: signals and genes controlling jaw patterning and identity in vertebrates. Bioessays. 2003 Jun;25(6):554-68. Review.
Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling. Thomason HA, Dixon MJ, Dixon J. Dev Biol. 2008 Sep 1;321(1):273-82.
Signaling through Tgf-beta type I receptor Alk5 is required for upper lip fusion. Li WY, Dudas M, Kaartinen V. Mech Dev. 2008 Sep-Oct;125(9-10):874-82.
Brito JM, Teillet MA, Le Douarin NM. An early role for Sonic hedgehog from foregut endoderm in jaw development: Ensuring neural crest cell survival. Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11607-12.
Schlosser G. Evolutionary origins of vertebrate placodes: insights from developmental studies and from comparisons with other deuterostomes. J Exp Zoolog B Mol Dev Evol. 2005 Jul 15;304(4):347-99.
"Ectodermal placodes comprise the adenohypophyseal, olfactory, lens, profundal, trigeminal, otic, lateral line, and epibranchial placodes. ...A scenario is presented according to which all placodes evolved from an adenohypophyseal-olfactory protoplacode, which may have originated in the vertebrate ancestor from the anlage of a rostral neurosecretory organ (surviving as Hatschek's pit in present-day amphioxus)."
Melnick M, Witcher D, Bringas P Jr, Carlsson P, Jaskoll T. Meckel's cartilage differentiation is dependent on hedgehog signaling. Cells Tissues Organs. 2005;179(4):146-57.
"...our results indicate that the Hh signaling pathway is critical to Meckel's cartilage ontogenesis and the rate of chondrogenesis, but not to initial primordium formation."
Matsuoka T, Ahlberg PE, Kessaris N, Iannarelli P, Dennehy U, Richardson WD, McMahon AP, Koentges G. Neural crest origins of the neck and shoulder. Nature. 2005 Jul 21;436(7049):347-55.
Search PubMed Now: face development | human face development
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The human face is one of the most unique structures with each individual having dictinctly individually recognisable features.
The formation of the face is embryologically a complicated structure undergoing continual growth and remodelling that is not "complete" until post-puberty.
Please email Dr Mark Hill if you wish to make a comment about this current project.
