Complications

See the list below:

Pulmonary hypoplasia
Renal failure
Liver failure

Prognosis

See the list below:

The mortality rate is 100%.
Most die before or right after delivery, but those who survive longer might have less severe abnormalities.
Autopsy provides valuable information that aids in diagnosis and genetic counseling for future pregnancies.

Patient Education

See the list below:

Provide genetic counseling for future pregnancies.

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Online Mendelian Inheritance in Man. Meckel syndrome, type 7; MKS7. OMIM. Available at http://www.omim.org/entry/267010?search=mks7&highlight=mks7. Accessed: Aug 19, 2015.
Online Mendelian Inheritance in Man. Meckel syndrome, type 8; MKS8. OMIM. Available at http://www.omim.org/entry/613885?search=mks8&highlight=mks8. Accessed: Aug 19, 2015.
Online Mendelian Inheritance in Man. Meckel syndrome, type 9; MKS9. OMIM. Available at http://www.omim.org/entry/614209?search=mks9&highlight=mks9. Accessed: Aug 19, 2015.
Online Mendelian Inheritance in Man. Meckel syndrome, type 10; MKS10. OMIM. Available at http://www.omim.org/entry/614175?search=mks10&highlight=mks10. Accessed: Aug 19, 2015.
Online Mendelian Inheritance in Man. Meckel syndrome, type 11; MKS11. OMIM. Available at http://www.omim.org/entry/615397?search=mks11&highlight=mks11. Accessed: Aug 19, 2015.
Online Mendelian Inheritance in Man. Meckel syndrome 12; MKS12. OMIM. Available at http://www.omim.org/entry/616258?search=mks12&highlight=mks12. Accessed: Aug 19, 2015.
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Author

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

Disclosure: Nothing to disclose.

Coauthor(s)

Michail Spiliopoulos, MD Clinical Assistant Professor, Department of Obstetrics, Gynecology, and Reproductive Sciences, Temple University Hospital

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

Disclosure: Nothing to disclose.

Anuj Jayakar Georgetown University School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

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 School of Medicine

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

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

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

Disclosure: Nothing to disclose.

Acknowledgements

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.

Sections Meckel-Gruber Syndrome
Overview
Presentation
- History
- Physical
- Causes
- Show All
DDx
Workup
Treatment
Medication
Follow-up
Tables
References

Protein Name	Locus Name	Gene	Chromosomal Locus
Meckel syndrome type 1 protein	MKS1	MKS1	17q23
...	MKS2	TMEM216	11q13
Meckelin	MKS3	TMEM67	8q21.1-q22.1
...	MKS4	CEP290	12q21.3
Protein fantom	MKS5	RPGRIP1L	16q12.2
Coiled-coil and C2 domain-containing protein 2A	MKS6	CC2D2a	4p15.3
...	MKS7	NPHP3	3q22.1
...	MKS8	TCTN2	12q24.31
...	MKS9	B9D1	17p11.2
...	MKS10	B9D2	19q13.2
...	MKS11	TMEM231	16q23.1
...	MKS12	KIF14	1q32.1

Meckel-Gruber Syndrome Follow-up

Complications

Prognosis

Patient Education

References

Tables

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