Signs and Symptoms of Genetic Conditions

H. Eugene Hoyme, MD, is a recognized international authority in medical genetics and fetal alcohol spectrum disorders. He currently serves as the Medical Director of the Sanford Children's Genomic Medicine Consortium-a collaborative initiative in pediatric precision medicine uniting 12 prominent children's hospitals and research universities. His previous roles include Chair of the Department of Pediatrics at the University of South Dakota Sanford School of Medicine, President of Sanford Research, and Chief Academic Officer at Sanford Health. Earlier in his career, Dr. Hoyme also held prominent academic and leadership positions at Stanford University, Lucile Packard Children's Hospital, and the University of Vermont.Omar A. Abdul-Rahman, MD, is Chief of Medical Genetics for the Department of Pediatrics at Weill Cornell Medicine and New York-Presbyterian Komansky Children's Hospital. After completing his medical and pediatrics residency at the University of Mississippi School ofMedicine, he trained in clinical genetics at Stanford University. He has also served in various roles including Division Chief of Medical Genetics and interim Chair of the Department of Pediatrics, Mississippi and Director of the Department of Genetic Medicine at the Munroe-Meyer Institute in the University of Nebraska Medical Center. Margaret P. Adam, MD, is an Attending Physician at Seattle Children's Hospital and a Professor in the Department of Pediatrics, Division of Genetic Medicine at the University of Washington School of Medicine. She is also the primary Clinical Geneticist in the Multidisciplinary Differences of Sex Development (DSD) Clinic at Seattle Children's Hospital and provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Dr Adam is Editor in Chief for GeneReviews, an NIH-supported, free, online, peer-reviewed reference for genetic conditions.Helga V. Toriello, PhD, is the Professor of Pediatricsand Human Development at the College of Human Medicine, Michigan State University and Director of Clinical Genetics at Spectrum Health Hospitals in Grand Rapids. She received her PhD in genetics from Michigan State University.

• PrefaceAbout the EditorsList of Contributors 1. Genetic CounselingTaylor Berninger and Becca Loman 2. Genetic TestingKristina P. Cusmano-Ozog, Gregory M. Enns, and Tina M. Cowan 3. Short StatureMelanie A. Manning 4. ObesityAnita E. Beck, Alyssa Huang, Grace J. Kim, and Parisa Salehi 5. Overgrowth SyndromesMargaret P. Adam and Tara L. Wenger 6. AsymmetryChristopher T. Cummings and Omar A. Abdul-Rahman 7. MicrocephalyJacob Hogue and Cynthia Curry 8. MacrocephalyHelga V. Toriello and Margaret P. Adam 9. Alterations in Cranial ShapeMichael J. Lyons 10. Hydrocephalus and Brain MalformationsAnne Slavotinek 11. Intellectual DisabilityAgatino Battaglia, Chiara Bosetti, and Azzurra Almesberger 12. Autism Spectrum DisordersG. Bradley Schaefer 13. HypotoniaGregory M. Enns 14. WeaknessJennifer M. Kwon and Robert D. Steiner 15. AtaxiaChing H. Wang and Gregory M. Enns 16. SeizuresH. Eugene Hoymef and Ghayda Mirzaa 17. Genetic Neurodegenerative DisordersFanny M. Elahi, Rafi Hadad, Yared Zewde, and Bruce L. Miller 18. Inborn Errors of ImmunityJoshua Manor 19. Metabolic AcidosisTina M. Cowan and Gregory M. Enns 20. HypoglycemiaMonica Penon-Portmann and Irene J. Chang 21. HyperammonemiaGregory M. Enns and Tina M. Cowan 22. HepatosplenomegalyRenata C. Gallagher 23. JaundiceLinda Rossetti and Helga V. Toriello 24. Hearing LossKristal Platt and Eloise Prijoles 25. Malformations of the External EarChad Haldeman-Englert and Helga V. Toriello 26. Anomalies of the Eye and Visual ImpairmentGraeme C. Black 27. Facial CleftingMargaret P. Adam and Helga V. Toriello 28. Congenital Heart DefectsDerek B. Hoyme and H. Eugene Hoyme 29. Renal MalformationsJoseph T. C. Shieh 30. Differences of Sex DevelopmentNathan B. Adam, Blythe Stewart, and Louise C. Pyle 31. Limb AnomaliesDavid B. Everman 32. Congenital ContracturesPhilip F. Giampietro and Judith G. Hall 33. Alterations in Skin PigmentationAnna L. Bruckner 34. Skin MalformationsMary Beth Palko Dinulos 35. Edema and Fetal HydropsEvelyn Lilly, Gaurav M. Parmar, and Melissa L. Crenshaw 36. Spontaneous Abortion and Intrauterine Fetal DemiseAndrea Hanson-Kahn, Callan Russell, Christina Tise, and H. Eugene Hoyme Index