The Genetics of Facial Morphology


Human facial morphology broadly encompasses several distinct facial structures that alone and together contain enormous variations which contribute to our physical identities as both individuals and members of families and populations. The human face comprises an assemblage of multifactorial complex traits, with clear genetic components and known environmental factors playing key roles in its development and maturation throughout life. Current understanding of the genes and pathways pertaining to normal facial development and morphology comes largely from research on craniofacial malformations in both humans and animal models. Recent advances in methodology for deriving accurate and precise facial traits have allowed for several large genomic studies that have provided new insights into the heritability and genes involved in normal facial variation. Continued research on the genetics of facial morphology will improve quantitative diagnosis, treatment and management of craniofacial syndromes, perhaps enabling us to one day model the human face from deoxyribonucleic acid (DNA).

Key Concepts

  • Understanding the genetics of normal human facial morphology and development provides insights relevant to the fields of both medicine and forensics.
  • The known genes and signalling pathways that are involved in craniofacial development have mostly been identified through studies of craniofacial malformations and typically relate to the embryonic development of cranial neural crest cells.
  • Quantifying normal human facial traits that are both accurate and precise is exceedingly important to understanding the genetic architecture of those traits.
  • There exist numerous diverse quantitation methods for studying both the underlying facial skeleton and the overlying soft facial tissues.
  • Overall, the human face is highly heritable. However, large differences in the study design and population attributes pertaining to age, ethnicity and environmental background have led to limited consistency in heritability estimates and genetic conclusions.
  • Five genome‐wide association studies to date have identified largely non‐overlapping genome‐wide significant loci for normal facial morphology, with some of these located in or near genes previously implicated in rare craniofacial syndromes and/or facial development.
  • Animal studies of facial development are a powerful tool both for identifying candidate genes and for functional analyses of candidate genes from human studies.

Keywords: facial morphology; complex traits; genetics; morphometrics; craniofacial; development


Adhikari K, Fuentes‐Guajardo M, Quinto‐Sánchez M, et al. (2016) A genome‐wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nature Communications 7: 11616.

Atchley WR, Rutledge J and Cowley DE (1981) Genetic components of size and shape. II. Multivariate covariance patterns in the rat and mouse skull. Evolution 35 (6): 1037–1055.

Aulchenko YS, Struchalin MV, Belonogova NM, et al. (2009) Predicting human height by Victorian and genomic methods. European Journal of Human Genetics 17 (8): 1070–1075.

Balk K and Biesecker LG (2008) The clinical atlas of Greig cephalopolysyndactyly syndrome. American Journal of Medical Genetics Part A 146A (5): 548–557.

Balliu B, Würtz RP, Horsthemke B, et al. (2014) Classification and visualization based on derived image features: application to genetic syndromes. PLoS One 9 (11): e109033.

Bastir M and Rosas A (2004) Facial heights: evolutionary relevance of postnatal ontogeny for facial orientation and skull morphology in humans and chimpanzees. Journal of Human Evolution 47 (5): 359–381.

Bastir M, Rosas A and O'Higgins P (2006) Craniofacial levels and the morphological maturation of the human skull. Journal of Anatomy 209 (5): 637–654.

Berk NW and Marazita ML (2002) Costs of cleft lip and palate: personal and societal implications. In: Wyszynski DF (ed.) Cleft Lip and Palate: From Origin to Treatment, pp. 458–467. New York: Oxford University Press.

Bernier R, Golzio C, Xiong B, et al. (2014) Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158 (2): 263–276.

Boehringer S, Van Der Lijn F, Liu F, et al. (2011) Genetic determination of human facial morphology: links between cleft‐lips and normal variation. European Journal of Human Genetics 19 (11): 1192–1197.

Bookstein FL (1984) A statistical method for biological shape comparisons. Journal of Theoretical Biology 107 (3): 475–520.

Brinkley JF, Fisher S, Harris MP, et al. (2016) The FaceBase Consortium: a comprehensive resource for craniofacial researchers. Development (Cambridge, England) 143 (14): 2677–2688.

Broadbent BH (1981) A new X‐ray technique and its application to orthodontia: the introduction of cephalometric radiography. The Angle Orthodontist 51 (2): 93–114.

Buretić‐Tomljanović A, Giacometti J, Ostojić S, et al. (2007) Sex‐specific differences of craniofacial traits in croatia: the impact of environment in a small geographic area. Annals of Human Biology 34 (3): 296–314.

Byard P, Lewis A, Ohtsuki F, et al. (1983) Sibling correlations for cranial measurements from serial radiographs. Journal of Craniofacial Genetics and Developmental Biology 4 (4): 265–269.

Byard P, Poosha D, Satyanarayana M, et al. (1984) Family resemblance for components of craniofacial size and shape. Journal of Craniofacial Genetics and Developmental Biology 5 (3): 229–238.

Carson EA (2006) Maximum likelihood estimation of human craniometric heritabilities. American Journal of Physical Anthropology 131 (2): 169–180.

Cheverud JM (1982) Phenotypic, genetic, and environmental morphological integration in the cranium. Evolution 36: 499–516.

Claes P, Hill H and Shriver MD (2014a) Toward DNA‐based facial composites: preliminary results and validation. Forensic Science International: Genetics 13: 208–216.

Claes P, Liberton DK, Daniels K, et al. (2014b) Modeling 3D facial shape from DNA. PLoS Genetics 10 (3): e1004224.

Clifford E (1979) Psychological aspects of cleft lip and palate. In: Kenneth R Bzoch (ed.) Communicative Disorders Related to Cleft Lip and Palate, pp. 37–51. Boston: Little, Brown.

Cole JB, Manyama M, Kimwaga E, et al. (2016) Genomewide association study of african children identifies association of SCHIP1 and PDE8A with facial size and shape. PLoS Genetics 12 (8): e1006174.

Cole JB, Manyama M, Larson JR, et al. (2017) Human facial shape and size heritability and genetic correlations. Genetics 205 (2): 967–978.

Colwell AS, Longaker MT and Lorenz HP (2003) Fetal wound healing. Frontiers in Bioscience: a Journal and Virtual Library 8: s1240–s1248.

von Cramon‐Taubadel N (2014) Evolutionary insights into global patterns of human cranial diversity: population history, climatic and dietary effects. Journal of Anthropological Sciences 92 (4): 43–47.

Dean MC and Wood BA (1984) Phylogeny, neoteny and growth of the cranial base in hominoids. Folia Primatologica 43 (2–3): 157–180.

Deardorff MA, Bando M, Nakato R, et al. (2012) HDAC8 mutations in cornelia de lange syndrome affect the cohesin acetylation cycle. Nature 489 (7415): 313–317.

Fagertun J, Wolffhechel K, Pers TH, et al. (2015) Predicting facial characteristics from complex polygenic variations. Forensic Science International: Genetics 19: 263–268.

Farkas LG and Cheung G (1981) Facial asymmetry in healthy North American Caucasians: an anthropometrical study. The Angle Orthodontist 51 (1): 70–77.

Farkas LG, Katic M, Hreczko TA, et al. (1984) Anthropometric proportions in the upper lip‐lower lip‐chin area of the lower face in young white adults. American Journal of Orthodontics 86 (1): 52–60.

Farkas LG, Katic MJ and Forrest CR (2005) International anthropometric study of facial morphology in various ethnic groups/races. The Journal of Craniofacial Surgery 16 (4): 615–646.

Fjørtoft MI, Sevely A, Boetto S, et al. (2007) Prenatal diagnosis of craniosynostosis: value of MR imaging. Neuroradiology 49 (6): 515–521.

Formby WA, Nanda RS and Currier GF (1994) Longitudinal changes in the adult facial profile. American Journal of Orthodontics and Dentofacial Orthopedics 105 (5): 464–476.

Ghi T, Perolo A, Banzi C, et al. (2002) Two‐dimensional ultrasound is accurate in the diagnosis of fetal craniofacial malformation. Ultrasound in Obstetrics and Gynecology 19 (6): 543–551.

Goodall C (1991) Procrustes methods in the statistical analysis of shape. Journal of the Royal Statistical Society: Series B: Methodological 53 (2): 285–339.

Goodwin AF, Larson JR, Jones KB, et al. (2014) Craniofacial morphometric analysis of individuals with X‐linked hypohidrotic ectodermal dysplasia. Molecular Genetics & Genomic Medicine 2 (5): 422–429.

Gower JC (1975) Generalized procrustes analysis. Psychometrika 40 (1): 33–51.

Gullino E, Serra M, Ansaldi C, et al. (2006) Bilateral cleft lip and palate diagnosed sonographically at 11 weeks of pregnancy. Journal of Clinical Ultrasound 34 (8): 398–401.

Guo J, Mei X and Tang K (2013) Automatic landmark annotation and dense correspondence registration for 3D human facial images. BMC Bioinformatics 14 (1): 232.

Hale F (1935) The relation of vitamin a to anophthalmos in pigs. American Journal of Ophthalmology 18 (12): 1087–1093.

Hammond P, Hutton TJ, Allanson JE, et al. (2004) 3D analysis of facial morphology. American Journal of Medical Genetics. Part A 126A (4): 339–348.

Hammond P (2007) The use of 3D face shape modelling in dysmorphology. Archives of Disease in Childhood 92 (12): 1120–1126.

Hanson JW, Myrianthopoulos NC, Harvey MAS, et al. (1976) Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome. The Journal of Pediatrics 89 (4): 662–668.

Hirschhorn JN and Daly MJ (2005) Genome‐wide association studies for common diseases and complex traits. Nature Reviews Genetics 6 (2): 95–108.

Howells WW (1957) The cranial vault: factors of size and shape. American Journal of Physical Anthropology 15 (1): 19–48.

Hrdlička A (1920) Anthropometry. American Journal of Physical Anthropology 3 (1): 147–173.

Hughes BO (1942) Heredity as a factor in cranial and facial development. American Journal of Orthodontics and Oral Surgery 28 (6): 357–360.

Jaillet J, Robert‐Gnansia E, Till M, et al. (2005) Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency. Birth Defects Research, Part A: Clinical and Molecular Teratology 73 (3): 188–193.

Jones K, Smith D, Ulleland C, et al. (1973) Pattern of malformation in offspring of chronic alcoholic mothers. The Lancet 301 (7815): 1267–1271.

Kamnasaran D, O'Brien PC, Zackai EH, et al. (2003) Rearrangement in the PITX2 and MIPOL1 genes in a patient with at (4; 14) chromosome. European Journal of Human Genetics 11 (4): 315–324.

Khoury MJ, Gomez‐Farias M and Mulinare J (1989) Does maternal cigarette smoking during pregnancy cause cleft lip and palate in offspring? American Journal of Diseases of Children 143 (3): 333–337.

Kohn LAP (1991) The role of genetics in craniofacial morphology and growth. Annual Review of Anthropology 20: 261–278.

Kolar JC, Munro IR and Farkas LG (1987) Anthropometric evaluation of dysmorphology in craniofacial anomalies: Treacher Collins syndrome. American Journal of Physical Anthropology 74 (4): 441–451.

Kotch LE and Sulik KK (1992) Experimental fetal alcohol syndrome: proposed pathogenic basis for a variety of associated facial and brain anomalies. American Journal of Medical Genetics 44 (2): 168–176.

Kraus BS, Wise WJ and Frei RH (1959) Heredity and the craniofacial complex. American Journal of Orthodontics 45 (3): 172–217.

Kung S, Walters M, Claes P, et al. (2012) A dysmorphometric analysis to investigate facial phenotypic signatures as a foundation for non‐invasive monitoring of lysosomal storage disorders. JIMD Reports 8: 31–39.

Lammer EJ, Chen DT, Hoar RM, et al. (1985) Retinoic acid embryopathy. New England Journal of Medicine 313 (14): 837–841.

Lande MJ (1952) Growth behavior of the human bony facial profile as revealed by serial cephalometric roentgenology. The Angle Orthodontist 22 (2): 78–90.

Laurence KM, James N, Miller M, et al. (1980) Increased risk of recurrence of pregnancies complicated by fetal neural tube defects in mothers receiving poor diets, and possible benefit of dietary counselling. British Medical Journal 281 (6255): 1592–1594.

Learned‐Miller E, Lu Q, Paisley A, et al. (2006) Detecting acromegaly: screening for disease with a morphable model. Medical Image Computing and Computer‐Assisted Intervention: MICCAI (9th International Conference, Copenhagen, Denmark, October 1–6, 2006. Proceedings, part II. R. Larsen, M. Nielsen and J. Sporring. Berlin, Heidelberg, Springer) 9 (Pt 2): 495–503.

Lebow MR and Sawin PB (1941) Inheritance of human facial features: a pedigree study involving length of face, prominent ears and chin cleft. Journal of Heredity 32 (4): 127–132.

Lewis JL, Lew WD and Zimmerman JR (1980) A nonhomogeneous anthropometric scaling method based on finite element principles. Journal of Biomechanics 13 (10): 815–824.

Li M, Cole JB, Manyama M, et al. (2017) Rapid automated landmarking for morphometric analysis of three‐dimensional facial scans. Journal of Anatomy 230 (4): 607–618.

Liao C, Fu F, Li R, et al. (2013) Loss‐of‐function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. European Journal of Medical Genetics 56 (9): 484–489.

Liu F, van der Lijn F, Schurmann C, et al. (2012) A genome‐wide association study identifies five loci influencing facial morphology in europeans. PLoS Genetics 8 (9): e1002932.

Liu F, Hendriks AEJ, Ralf A, et al. (2014) Common DNA variants predict tall stature in europeans. Human Genetics 133 (5): 587–597.

Lundström A and McWilliam JS (1987) A comparison of vertical and horizontal cephalometric variables with regard to heritability. European Journal of Orthodontics 9 (1): 104–108.

Mangione R, Lacombe D, Carles D, et al. (2003) Craniofacial dysmorphology and three‐dimensional ultrasound: a prospective study on practicability for prenatal diagnosis. Prenatal Diagnosis 23 (10): 810–818.

Manyama M, Larson JR, Liberton DK, et al. (2014) Facial morphometrics of children with non‐syndromic orofacial clefts in tanzania. BMC Oral Health 14 (1): 93.

Marouli E, Graff M, Medina‐Gomez C, et al. (2017) Rare and low‐frequency coding variants alter human adult height. Nature 542 (7640): 186–190.

Martínez‐Abadías N, Esparza M, Sjøvold T, et al. (2009a) Heritability of human cranial dimensions: comparing the evolvability of different cranial regions. Journal of Anatomy 214 (1): 19–35.

Martínez‐Abadías N, Paschetta C, de Azevedo S, et al. (2009b) Developmental and genetic constraints on neurocranial globularity: insights from analyses of deformed skulls and quantitative genetics. Evolutionary Biology 36 (1): 37–56.

Mesimäki K, Lindroos B, Törnwall J, et al. (2009) Novel maxillary reconstruction with ectopic bone formation by GMP adipose stem cells. International Journal of Oral and Maxillofacial Surgery 38 (3): 201–209.

Moore GR and Hughes BO (1942) Familial factors in diagnosis, treatment, and prognosis of dentofacial disturbances. American Journal of Orthodontics and Oral Surgery 28 (10): 603–639.

Nakata M, Yu P‐L, Davis B, et al. (1974) Genetic determinants of cranio‐facial morphology: a twin study. Annals of Human Genetics 37 (4): 431–443.

Nanni L, Ming JE, Bocian M, et al. (1999) The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Human Molecular Genetics 8 (13): 2479–2488.

Negus VE (1949) The Comparative Anatomy and Physiology of the Larynx. New York: Hafner Pub. Company.

Neubauer S, Gunz P and Hublin JJ (2010) Endocranial shape changes during growth in chimpanzees and humans: a morphometric analysis of unique and shared aspects. Journal of Human Evolution 59 (5): 555–566.

Niklas K (1977) Applications of finite element analyses to problems in plant morphology. Annals of Botany 41 (1): 133–153.

Nonaka K and Nakata M (1983) Genetic variation and craniofacial growth in inbred rats. Journal of Craniofacial Genetics and Developmental Biology 4 (4): 271–302.

Parenti I, Gervasini C, Pozojevic J, et al. (2016) Expanding the clinical spectrum of the ‘HDAC8‐phenotype’–implications for molecular diagnostics, counseling and risk prediction. Clinical Genetics 89 (5): 564–573.

Parsons TE, Schmidt EJ, Boughner JC, et al. (2011) Epigenetic integration of the developing brain and face. Developmental Dynamics 240 (10): 2233–2244.

Paternoster L, Zhurov AI, Toma AM, et al. (2012) Genome‐wide association study of three‐dimensional facial morphology identifies a variant in PAX3 associated with nasion position. American Journal of Human Genetics 90 (3): 478–485.

Peters H, Neubüser A, Kratochwil K, et al. (1998) Pax9‐deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes and Development 12 (17): 2735–2747.

Pohl E, Aykut A, Beleggia F, et al. (2013) A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Human Genetics 132 (11): 1311–1320.

Rajan A, Eubanks E, Edwards S, et al. (2014) Optimized cell survival and seeding efficiency for craniofacial tissue engineering using clinical stem cell therapy. Stem Cells Translational Medicine 3 (12): 1495–1503.

Rieder MJ, Green GE, Park SS, et al. (2012) A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. The American Journal of Human Genetics 90 (5): 907–914.

Riolo M, Moyers R, McNamara J, et al. (1974) An Atlas of Cephalometric Growth: Craniofacial Standards for the University School Growth Study, the University of Michigan. Ann Arbor: Center for Human Growth and Development.

Roessler E, Belloni E, Gaudenz K, et al. (1996) Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nature Genetics 14: 357.

Rohlf FJ and Slice D (1990) Extensions of the procrustes method for the optimal superimposition of landmarks. Systematic Zoology 39 (1): 40–59.

Ross CF and Ravosa MJ (1993) Basicranial flexion, relative brain size, and facial kyphosis in nonhuman primates. American Journal of Physical Anthropology 91 (3): 305–324.

Rubbrecht O (1939) A study of the heredity of the anomalies of the jaws. American Journal of Orthodontics and Oral Surgery 25 (8): 751–779.

Sasaki Y, O'Kane S, Dixon J, et al. (2007) Temporal and spatial expression of pax9 and sonic hedgehog during development of normal mouse palates and cleft palates in TGF‐β3 null embryos. Archives of Oral Biology 52 (3): 260–267.

Satoda M, Zhao F, Diaz GA, et al. (2000) Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nature Genetics 25 (1): 42–46.

Schmahl J, Raymond CS and Soriano P (2007) PDGF signaling specificity is mediated through multiple immediate early genes. Nature Genetics 39 (1): 52–60.

Semb G, Brattström V, Mølsted K, et al. (2005) The eurocleft study: intercenter study of treatment outcome in patients with complete cleft lip and palate. Part 4: Relationship among treatment outcome, patient/parent satisfaction, and the burden of care. The Cleft Palate‐Craniofacial Journal 42 (1): 83–92.

Shaffer JR, Orlova E, Lee MK, et al. (2016) Genome‐wide association study reveals multiple loci influencing normal human facial morphology. PLoS Genetics 12 (8): e1006149.

Shea BT (1985) On aspects of skull form in african apes and orangutans, with implications for hominoid evolution. American Journal of Physical Anthropology 68 (3): 329–342.

Siegel AF and Benson RH (1982) A robust comparison of biological shapes. Biometrics 38 (2): 341–350.

Sneath PH (1967) Trend‐surface analysis of transformation grids. Journal of Zoology 151 (1): 65–122.

Subramanyan K and Dean D (1996) Scanned bi‐orthogonal radiographs as a source for 3D cephalometric data. SPIE 2170: 717–724.

Subtelny JD (1959) A longitudinal study of soft tissue facial structures and their profile characteristics, defined in relation to underlying skeletal structures. American Journal of Orthodontics 45 (7): 481–507.

Takigawa Y, Hata K, Muramatsu S, et al. (2010) The transcription factor Znf219 regulates chondrocyte differentiation by assembling a transcription factory with Sox9. Journal of Cell Science 123 (21): 3780–3788.

Tavares VLR, Gordon CT, Zechi‐Ceide RM, et al. (2015) Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics 23 (4): 481–485.

Thesleff T, Lehtimäki K, Niskakangas T, et al. (2011) Cranioplasty with adipose‐derived stem cells and biomaterial: a novel method for cranial reconstruction. Neurosurgery 68 (6): 1535–1540.

Tolarova M (1982) Periconceptional supplementation with vitamins and folic acid to prevent recurrence of cleft lip. The Lancet 320 (8291): 217.

Twigg SR, Versnel SL, Nürnberg G, et al. (2009) Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. The American Journal of Human Genetics 84 (5): 698–705.

Vettraino IM, Lee W, Bronsteen RA, et al. (2003) Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia. Obstetrics & Gynecology 102 (4): 801–805.

Ward RE, Jamison PL and Allanson JE (2000) Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes. American Journal of Medical Genetics Part A 91 (1): 8–17.

Warkany J, Nelson RC and Schraffenberger E (1943) Congenital malformations induced in rats by maternal nutritional deficiency: III. The malformations of the extremities. JBJS 25 (2): 261–270.

Weinberg S, Naidoo S, Bardi K, et al. (2009) Face shape of unaffected parents with cleft affected offspring: combining three–dimensional surface imaging and geometric morphometrics. Orthodontics & Craniofacial Research 12 (4): 271–281.

Werler MM, Lammer EJ, Rosenberg L, et al. (1990) Maternal cigarette smoking during pregnancy in relation to oral clefts. American Journal of Epidemiology 132 (5): 926–932.

Wilamowska K, Shapiro L and Heike C (2009) Classification of 3D Face Shape in 22q11. 2 Deletion Syndrome. Biomedical Imaging: From Nano to Macro, 2009. ISBI'09. IEEE International Symposium on, IEEE.

Wood AR, Esko T, Yang J, et al. (2014) Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics 46 (11): 1173–1186.

Wylie WL (1944) A quantitative method for the comparison of cranio‐facial patterns in different individuals: its application to a study of parents and offspring. American Journal of Anatomy 74 (1): 39–60.

Young NM, Chong HJ, Hu D, et al. (2010) Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape. Development 137 (20): 3405–3409.

Zhao F, Weismann CG, Satoda M, et al. (2001) Novel TFAP2B mutations that cause char syndrome provide a genotype‐phenotype correlation. The American Journal of Human Genetics 69 (4): 695–703.

Further Reading

Burdi A (2006) Developmental biology and morphogenesis of the face, lip and palate. In: Berkowitz S (ed.) Cleft Lip and Palate, pp. 3–12. Berlin/Heidelberg: Springer.

Cobourne MT (2004) The complex genetics of cleft lip and palate. European Journal of Orthodontics 26 (1): 7–16.

Cobourne MT (2014) Construction for the modern head: current concepts in craniofacial development. Journal of Orthodontics 27 (4): 307–314.

Cordero DR, Brugmann S, Chu Y, et al. (2011) Cranial neural crest cells on the move: their roles in craniofacial development. American Journal of Medical Genetics Part A 155 (2): 270–279.

Francis‐West P, Ladher R, Barlow A, et al. (1998) Signalling interactions during facial development. Mechanisms of Development 75 (1): 3–28.

Gorlin RJ, Cohen MM Jr and Hennekam RC (2001) Syndromes of the Head and Neck. New York: Oxford University Press.

Hajeer M, Millett D, Ayoub A, et al. (2004) Current products and practices: applications of 3D imaging in orthodontics: Part I. Journal of Orthodontics 31 (1): 62–70.

Hallgrimsson B, Mio W, Marcucio RS, et al. (2014) Let's face it – complex traits are just not that simple. PLoS Genetics 10 (11): e1004724.

Helms JA, Cordero D and Tapadia MD (2005) New insights into craniofacial morphogenesis. Development 132 (5): 851–861.

Jones NC and Trainor PA (2004) The therapeutic potential of stem cells in the treatment of craniofacial abnormalities. Expert Opinion on Biological Therapy 4 (5): 645–657.

Kousa YA and Schutte BC (2016) Toward an orofacial gene regulatory network. Developmental Dynamics 245 (3): 220–232.

Kouskoura T, Fragou N, Alexiou M, et al. (2011) The genetic basis of craniofacial and dental abnormalities. Schweizer Monatsschrift für Zahnmedizin 121 (7–8): 636–646.

Marazita ML (2012) The evolution of human genetic studies of cleft lip and cleft palate. Annual Review of Genomics and Human Genetics 13: 263–283.

Marcucio RS, Young NM, Hu D, et al. (2011) Mechanisms that underlie co‐variation of the brain and face. Genesis 49 (4): 177–189.

Pasqualetti M and Rijli FM (2002) Developmental biology: the plastic face. Nature 416 (6880): 493–494.

Suzuki A, Sangani DR, Ansari A, et al. (2016) Molecular mechanisms of midfacial developmental defects. Developmental Dynamics 245 (3): 276–293.

Thomason HA and Dixon MJ (2001) Craniofacial defects and cleft lip and palate. In: Encyclopedia of Life Sciences. Chichester: John Wiley & Sons, Ltd.

Twigg SRF and Wilkie AOM (2015) New insights into craniofacial malformations. Human Molecular Genetics 24 (R1): R50–R59.

Van Otterloo E, Williams T and Artinger KB (2016) The old and new face of craniofacial research: how animal models inform human craniofacial genetic and clinical data. Developmental Biology 415 (2): 171–187.

Wilkie AOM and Morriss‐Kay GM (2001) Genetics of craniofacial development and malformation. Nature Reviews. Genetics 2 (6): 458–468.

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Cole, Joanne B, and Spritz, Richard A(Sep 2017) The Genetics of Facial Morphology. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0027240]