Meckel-Gruber Syndrome Differential Diagnoses

  • Author: Parul Bhagwati Jayakar, MD, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Sep 22, 2011
 
 

Differential Diagnoses

  • Bardet-Biedl syndrome
  • Carbohydrate-deficient Glycoprotein syndrome
  • Hydrolethalus syndrome
  • Joubert syndrome
  • Larsen syndrome
  • Smith-Lemli-Opitz Syndrome
  • Trisomy 13
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Contributor Information and Disclosures
Author

Parul Bhagwati Jayakar, MD, FACMG  Director of Neurogenetics/Metabolic Program, Director of Cytogenetics Laboratory, Consultant in Clinical Genetics, Division of Genetics and Metabolism, Miami Children's Hospital; Assistant Professor, Genetics Residency Program Director, University of Miami, Leonard M Miller School of Medicine

Parul Bhagwati Jayakar, MD, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Coauthor(s)

Michail Spiliopoulos, MD  Fellow, Department of Medical Genetics, Jackson Memorial Hospital, University of Miami, Leonard M Miller School of Medicine

Michail Spiliopoulos, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists

Disclosure: Nothing to disclose.

Anuj Jayakar  Georgetown University School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Christian J Renner, MD  Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Margaret M McGovern, MD, PhD  Professor and Chair of Pediatrics, Stony Brook University, New York

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics

Disclosure: Genzyme Grant/research funds PI

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors Suzanne M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.

References

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Table. Chromosomal Markers for Meckel Gruber Syndrome
Protein NameLocus NameGeneChromosomal Locus
Meckel syndrome type 1 proteinMKS1MKS117q23
...MKS2...11q13
MeckelinMKS3TMEM678q21.1-q22.1
...MKS4CEP29012q21.3
Protein fantomMKS5RPGRIP1L16q12.2
Coiled-coil and C2 domain-containing protein 2AMKS6CC2D2a4p15.3
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