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Meckel-Gruber syndrome

MedGen UID:: 120513
•Concept ID:: C0265215
•: Disease or Syndrome

Synonyms:	Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Meckel Syndrome
SNOMED CT:	Meckel-Gruber syndrome (29076005); Dysencephalia splanchnocystica (29076005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	TMEM67, B9D2, CEP290, TCTN2, CC2D2A, MKS1, TMEM216, B9D1, NPHP3, RPGRIP1L

Monarch Initiative:	MONDO:0018921
OMIM® Phenotypic series:	PS249000
Orphanet:	ORPHA564

Definition

A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Familial cystic renal disease
- Meckel-Gruber syndrome

Follow this link to review classifications for Meckel-Gruber syndrome in Orphanet.

Professional guidelines

PubMed

Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.

Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.

Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477

Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.

Alexiev BA, Lin X, Sun CC, Brenner DS
Arch Pathol Lab Med 2006 Aug;130(8):1236-8. doi: 10.5858/2006-130-1236-MS. PMID: 16879033

See all (14)

Recent clinical studies

Etiology

Ciliopathies and the Kidney: A Review.

McConnachie DJ, Stow JL, Mallett AJ
Am J Kidney Dis 2021 Mar;77(3):410-419. Epub 2020 Oct 9 doi: 10.1053/j.ajkd.2020.08.012. PMID: 33039432

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C
Pediatr Nephrol 2017 Oct;32(10):1989-1992. Epub 2017 Jun 15 doi: 10.1007/s00467-017-3710-8. PMID: 28620746

Renal cystic disease and associated ciliopathies.

Kagan KO, Dufke A, Gembruch U
Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. PMID: 28151755

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.

Barker AR, Thomas R, Dawe HR
Organogenesis 2014 Jan 1;10(1):96-107. Epub 2013 Dec 9 doi: 10.4161/org.27375. PMID: 24322779 Free PMC Article

See all (51)

Diagnosis

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147

The Pathophysiology of Inherited Renal Cystic Diseases.

Satariano M, Ghose S, Raina R
Genes (Basel) 2024 Jan 11;15(1) doi: 10.3390/genes15010091. PMID: 38254980 Free PMC Article

Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.

Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012

Renal cystic disease and associated ciliopathies.

Kagan KO, Dufke A, Gembruch U
Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. PMID: 28151755

Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.

Alexiev BA, Lin X, Sun CC, Brenner DS
Arch Pathol Lab Med 2006 Aug;130(8):1236-8. doi: 10.5858/2006-130-1236-MS. PMID: 16879033

See all (96)

Therapy

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

Lee SH, Nam TS, Li W, Kim JH, Yoon W, Choi YD, Kim KH, Cai H, Kim MJ, Kim C, Choy HE, Kim N, Chay KO, Kim MK, Choi SY
Sci Rep 2017 Aug 31;7(1):10222. doi: 10.1038/s41598-017-10652-z. PMID: 28860541 Free PMC Article

See all (1)

Prognosis

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.

Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300

Hepatorenal fibrocystic diseases in children.

Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382

The ciliopathies: an emerging class of human genetic disorders.

Badano JL, Mitsuma N, Beales PL, Katsanis N
Annu Rev Genomics Hum Genet 2006;7:125-48. doi: 10.1146/annurev.genom.7.080505.115610. PMID: 16722803

Meckel-Gruber syndrome.

Gazioğlu N, Vural M, Seçkin MS, Tüysüz B, Akpir E, Kuday C, Ilikkan B, Erginel A, Cenani A
Childs Nerv Syst 1998 Mar;14(3):142-5. doi: 10.1007/s003810050198. PMID: 9579873

See all (30)

Clinical prediction guides

Fetal ciliopathies: a retrospective observational single-center study.

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737 Free PMC Article