Management of Genetic Syndromes, Third Edition
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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded

A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders.

Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides:

  • A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families

  • Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management

  • A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis

  • Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews

  • A list of family support organizations and resources for professionals and families

Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders.

From a review of the first edition:

"An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics


Suzanne Cassidy, MD, is Clinical Professor of Pediatrics at University of California, San Francisco and at University of California, Irvine. She is a board-certified Medical Geneticist and Pediatrician who has focused on care of individuals with genetic syndromes throughout her 30-year academic and clinical career. She is devoted to educating medical geneticists, having served on the American Board of Medical Genetics and the founding Residency Review Committee for Medical Genetics, as well as directed genetics training programs in 4 institutions. She served on the board of directors of the American Society of Human Genetics and as a member of the Board of Scientific Counselors of National Center for Human Genome Research at NIH. She has been identified as one of 'America's Top Doctors'.

Judith E. Allanson, MD, is Chief of the Department of Genetics, and Professor of Pediatrics at the University of Ottawa.  She is a board-certified Medical Geneticist and Internist with longstanding interests in pattern recognition, syndrome identification and management.


Foreword to the Third Edition.

Foreword to the Second Edition.

Foreword to the First Edition.



1 Introduction (Suzanne B. Cassidy and Judith E. Allanson).

2 Aarskog Syndrome (Roger E. Stevenson).

3 Achrondroplasia (Richard M. Pauli).

4 Alagille Syndrome (Binita M. Kamath and Ian D. Krantz).

5 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome (Richard A. King and C. Gail Summers).

6 Angelman Syndrome (Charles A. Williams and Aditi Dagli).

7 Arthrogryposis (Judith G. Hall).

8 ATR-X (α-Thalassemia Mental Retardation-X-Linked) (Richard J. Gibbons).

9 Bardet-Biedl Syndrome (Anne M. Slavotinek).

10 Beckwith-Wiedemann Syndrome and Hemihyperplasia (Rosanna Weksberg, Cheryl Shuman, and Bruce Beckwith).

11 Cardio-Facio-Cutaneous Syndrome (Maria Inês Kavamura and Giovanni Neri).

12 CHARGE Syndrome (Christine A. Oley).

13 Coffin-Lowry Syndrome (Alasdair G.W. Hunter).

14 Cohen Syndrome (Kate Chandler and Jill Clayton-Smith).

15 Cornelia de Lange Syndrome (David R. Fitzpatrick and Antonie D. Kline).

16 Costello Syndrome (Bronwyn Kerr, Karen W. Gripp and Angela E. Lin).

17 Craniosynostosis Syndromes (Karen W. Gripp and Elaine H. Zackai).

18 Deletion 1p36 Syndrome (Agatino Battaglia).

19 Deletion 4p: Wolf-Hirschhorn Syndrome (Agatino Battaglia).

20 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome) (Donna M. McDonald-McGinn, Taisa Kohut and Elaine H. Zackai).

21 Deletion 22q13 Syndrome: Phelan-McDermid Syndrome (Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers).

22 Denys-Drash and Frasier Syndromes (Carol L. Clericuzio).

23 Down Syndrome (Alasdair G.W. Hunter).

24 Ehlers-Danlos Syndromes (Brad T. Tinkle and Carrie L. Atzinger).

25 Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder (Albert E. Chudley and Sally E. Longstaffe).

26 Fetal Anticonvulsant Syndrome (H. Eugene Hoyme, Renata C. Gallagher, and Kerry Kingham).

27 Fragile X Syndrome and Premutation-Associated Disorders (Randi J. Hagerman).

28 Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome) (Peter Farndon).

29 Hereditary Hemorrhagic Telangiectasia (Mary E.M. Porteous and Jonathan N. Berg).

30 Holoprosencephaly (Andrea L. Gropman and Maximilian Muenke).

31 Incontinentia Pigmenti (Dian Donnai).

32 Kabuki Syndrome (Sarah Dugan and Louanne Hudgins).

33 Klinefelter Syndrome (Jeannie Visootsak, John M. Graham Jr., Carole Samango-Sprouse, Ronald Swerdloff, and Joe Leigh Simpson).

34 Marfan Syndrome (Uta Francke).

35 Mowat-Wilson Syndrome (David Mowat and Meredith Wilson).

36 Myotonic Dystrophy Type I (Christine E.M. de Die-Smulders, Frans G.I. Jennekens and Carin G. Faber).

37 Neurofibromatosis Type 1 (David Viskochil).

38 Noonan Syndrome (Judith E. Allanson).

39 Oculo-Auriculo-Vertebral Spectrum (Koenraad Devriendt, Luc de Smet and Ingele Casteels).

40 Osteogenesis Imperfecta (Joan C. Marini).

41 Pallister-Hall and Greig Cephalopolysyndactyly Syndromes (Leslie G. Biesecker).

42 Prader-Willi Syndrome (Suzanne B. Cassidy and Shawn E. McCandless).

43 Proteus Syndrome (Leslie G. Biesecker).

44 PTEN Hamartoma Tumor Syndromes (Emily Edelman and Charis Eng).

45 Rett Syndrome (Eric E. Smeets and Connie T.R.M. Schrander-Stumpel).

46 Robin Sequence (Howard M. Saal).

47 Rubinstein-Taybi Syndrome (Raoul C.M. Hennekam).

48 Russell-Silver Syndrome (Howard M. Saal).

49 Smith-Lemli-Opitz Syndrome (Christopher Cunniff).

50 Smith-Magenis Syndrome (Ann C.M. Smith and Andrea Gropman).

51 Sotos Syndrome (Trevor R.P. Cole).

52 Stickler Syndrome (Clair A. Francomano).

53 Treacher Collins Syndrome and Related Disorders (Marilyn C. Jones).

54 Trisomy 18 and Trisomy 13 Syndromes (John C. Carey).

55 Tuberous Sclerosis Complex (Hope Northrup, Michael J. Gambello, Kit Sing Au, and Mary Kay Koenig).

56 Turner Syndrome (Marsha L. Davenport).

57 Vater/Vacterl Association (Bryan D. Hall).

58 von Hippel-Lindau Syndrome (R. Neil Schimke and Debra L. Collins).

59 WAGR Syndrome (Carol L. Clericuzio).

60 Williams Syndrome (Colleen A. Morris).



“Given that this is a book that has a useful place, potentially, in the clinic of any general paediatrician as will show all the wear and tear features of being well turned and well read."  (Human Genetics, 22 March 2011)