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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: 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]

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

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
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
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
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: 24322779Free PMC Article

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
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
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
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
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

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: 28860541Free PMC Article

Prognosis

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
Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
Khurana S, Saini V, Wadhwa V, Kaur H
J Ultrasound 2017 Jun;20(2):167-170. Epub 2017 Jan 4 doi: 10.1007/s40477-016-0231-4. PMID: 28593008Free PMC Article
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
Meckel-Gruber syndrome.
Ramachandran U, Malla T, Joshi KS
Kathmandu Univ Med J (KUMJ) 2006 Jul-Sep;4(3):334-6. PMID: 18603929
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

Clinical prediction guides

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
Meckel Gruber syndrome, A case report.
Aslan K, Külahçı Aslan E, Orhan A, Atalay MA
Organogenesis 2015;11(2):87-92. Epub 2015 Jun 2 doi: 10.1080/15476278.2015.1055431. PMID: 26037304Free PMC Article
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: 24322779Free PMC Article
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-Grüber syndrome: sonography and pathology.
Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler MC, Laquerrière A, Avni EF
Ultrasound Obstet Gynecol 2006 Mar;27(3):296-300. doi: 10.1002/uog.2708. PMID: 16450359

Recent systematic reviews

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

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