Steven F. Miller, Ph.D.

Assistant Professor

PortraitMidwestern University
College of Graduate Studies
Department of Anatomy
Science Hall 542-G
555 31st St.
Downers Grove, IL 60515

Office: (630) 630-515-7424


BA Anthropology Pennsylvania State University 2000
MA Anthropology University of Iowa 2002
Ph.D. Anthropology University of Iowa 2010


Morphological Variation in the Craniofacial Complex 

As a researcher, I am most interested in understanding the intersection between, genes, the environment, and the morphology of the craniofacial complex in humans. The overarching goal of my research is to address complex questions of how gene-environment interactions can influence both normal and abnormal craniofacial morphology. More specifically, my work centers on elucidating the genetic underpinnings of the phenotypic spectrum of the masticatory complex through examining both non-syndromic cleft lip and palate (NSCL/P) and malocclusion. While this work has been done largely from a candidate gene perspective, I am shifting my focus to larger genetic datasets, incorporating genome wide association study (GWAS) data in my exploration of the etiology of craniofacial form. GWAS data provides us with the possibility of finding novel genetic variants, increasing our threshold for new discoveries. I also incorporate complex phenotyping methods through the use of geometric morphometrics (GM) to accurately quantify three-dimensional variation in shape within the craniofacial complex. Combining these genetic and morphometric techniques allows us to study genotype-phenotype interactions at a level that was previously not possible.

Research projects

Project I: Non-syndromic cleft lip and palate (NSCL/P) is one of the most common congenital craniofacial birth defects seen in humans with roughly one out of every 700 live births having a cleft. My research seeks to employ geometric morphometrics to analyze the broad spectrum of clefting by accurately quantifying shape variation in both overt cleft phenotypes as well “sub-phenotypes” of clefts (phenotypes that do not display an overt cleft). This data allows us to measure subtle variations in morphology that are tied to the clefting phenotypic spectrum and then examine that data in conjunction with known genetic variants involved in both craniofacial growth and development as well as previously documented genes involved in syndromic clefting (such as IRF6 and van der Woude syndrome). I have also been involved in other aspects of research related to the quantification of facial clefts, such as objectively quantifying the success of cleft repairs and isolating genetic variants in key gene complexes like TGFβ3 and ARHGAP29 that are associated with poor healing outcomes for cleft repair.

Project II: My second line of research inquiry involves the quantification of malocclusion and its impact on craniofacial form as well as isolating genetic variants associated with malocclusion phenotypes. This research seeks to employ shape analysis to provide a more accurate means of objectively measuring malocclusion, which is essential in understanding genotype-phenotype interactions. Through this work, we have confirmed several previously implicated genetic variants for malocclusion as well as identified many new variants. Moving forward, my research will employ whole-genome (GWAS) data sets to facilitate the discovery of novel gene variants tied to several aspects of abnormal craniofacial form. Additionally, my work will incorporate environmental and behavioral variables into this examination of these genotype-phenotype interactions, with diet, smoking, and obesity serving as a primary focus.

Project III: Most recently, I have begun an examination of craniofacial asymmetry as it relates to aspects of craniofacial form in normal and anomalous craniofacial variation. Fluctuating asymmetry (FA) is a proxy for developmental noise and is an area of research underutilized in both cleft palate and malocclusion research. I have previously been involved with research looking specifically at the interaction between nasal septal deviation and craniofacial asymmetry and I plan to use this work as a spring board to examine palatal asymmetries tied to clefting as well as dental arch and mandibulo-maxillary asymmetries (as a function of moderate to severe malocclusion). Given that both of these craniofacial abnormalities are tied to issues with the growth process, FA research may provide a cohesive framework for better understanding the ultimate causal factors for both.

Selected Publications

Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition.
Zhang C, Miller SF, Roosenboom J, Wehby GL, Moreno Uribe LM, Hecht JT, Deleyiannis FWB, Christensen K, Marazita ML, Weinberg SM.
Am J Med Genet A. 2018 Jun;176(6):1296-1303. doi: 10.1002/ajmg.a.38688. Epub 2018 Apr 16. 
PMID: 29663709

Candidate gene analyses of 3-dimensional dentoalveolar phenotypes in subjects with malocclusion.
Weaver CA, Miller SF, Gomes da Fontoura CS, Wehby GL, Amendt BA, Holton N, Allareddy V, Southard TE, Moreno Uribe LM.  
American Journal of Orthodontics and Dentofacial Orthopedics. 151:539-58.

Patterns of morphological integration in the dental arches of individuals with malocclusion.
Miller SF, Vela KC, Levy SM, Southard TE, Gratton DG, Moreno Uribe LM.
Am J Hum Biol. 2016 Nov;28(6):879-889. doi: 10.1002/ajhb.22880. Epub 2016 Jun 13. 
PMID: 27292446

Nasal Septal Deviation and Facial Skeletal Asymmetries.
Hartman C, Holton N, Miller S, Yokley T, Marshall S, Srinivasan S, Southard T.
Anat Rec (Hoboken). 2016 Mar;299(3):295-306. doi: 10.1002/ar.23303. Epub 2016 Jan 22.
PMID: 26677010

Candidate Gene Analyses of Skeletal Variation in Malocclusion.
da Fontoura CS, Miller SF, Wehby GL, Amendt BA, Holton NE, Southard TE, Allareddy V, Moreno Uribe LM.
J Dent Res. 2015 Jul;94(7):913-20. doi: 10.1177/0022034515581643. Epub 2015 Apr 24.
PMID: 25910506

Genetics of the dentofacial variation in human malocclusion.
Moreno Uribe LM, Miller SF.
Orthod Craniofac Res. 2015 Apr;18 Suppl 1:91-9. doi: 10.1111/ocr.12083.
PMID: 25865537

Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.
Miller SF, Weinberg SM, Nidey NL, Defay DK, Marazita ML, Wehby GL, Moreno Uribe LM.
J Anat. 2014 Jun;224(6):688-709. doi: 10.1111/joa.12182. Epub 2014 Apr 16.
PMID: 24738728

Digital imaging analysis to assess scar phenotype.
Smith BJ, Nidey N, Miller SF, Moreno Uribe LM, Baum CL, Hamilton GS 3rd, Wehby GL, Dunnwald M.
Wound Repair Regen. 2014 Mar-Apr;22(2):228-38. doi: 10.1111/wrr.12141.
PMID: 24635173

Assessing mandibular shape variation within Gigantopithecus using a geometric morphometric approach.
Miller SF, White JL, Ciochon RL.
Am J Phys Anthropol. 2008 Oct;137(2):201-12. doi: 10.1002/ajpa.20856.
PMID: 18615565