Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome

Meckel-Gruber syndrome is a rare lethal malformation syndrome affecting several organs. The most typical malformations are occipital encephalocele, large polycystic kidneys, and polydactyly.

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
Cranioectodermal dysplasia
Joubert syndrome
Leber congenital amaurosis
Left-right axis malformations
Meckel syndrome
Meckel syndrome 02
TMEM216
Meckel syndrome 03
TMEM67
Meckel syndrome 05
RPGRIP1L
Meckel syndrome 06
CC2D2A
Meckel syndrome 08
TCTN2
Meckel syndrome 09
B9D1
Meckel syndrome 10
B9D2
Meckel syndrome 11
TMEM231
Meckel syndrome 13
TMEM107
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

References:

1.

Karmous-Benailly H et. al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

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2.

Kim SK et. al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

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3.

Kyttälä M et. al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

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4.

Consugar MB et. al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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5.

Auber B et. al. (2007) A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

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6.

Weatherbee SD et. al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

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7.

None (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

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8.

Adams M et. al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

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9.

Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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10.

Shaheen R et. al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

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11.

Shaheen R et. al. (2013) Mutations in TMEM231 cause Meckel-Gruber syndrome.

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12.

Ahdab-Barmada M et. al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

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13.

Paavola P et. al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

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14.

Roume J et. al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.

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15.

Frank V et. al. (2008) Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

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16.

Simpson JL et. al. (1991) Genetic heterogeneity in neural tube defects.

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17.

Walpole IR et. al. (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?

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18.

Herriot R et. al. (1991) Dandy-Walker malformation in the Meckel syndrome.

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19.

Farag TI et. al. (1990) Phenotypic variability in Meckel-Gruber syndrome.

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20.

Pachì A et. al. (1989) Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

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21.

Blankenberg TA et. al. (1987) Pathology of renal and hepatic anomalies in Meckel syndrome.

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22.

None (1986) Distal obstructive uropathy with polydactyly: a new syndrome?

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23.

Rapola J et. al. (1985) Visceral anomalies in the Meckel syndrome.

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24.

Young ID et. al. (1985) High incidence of Meckel's syndrome in Gujarati Indians.

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25.

Fitch N et. al. (1973) The Meckel syndrome with limited expression in relatives.

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26.

Naffah J et. al. (1972) [Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion].

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27.

None (1970) Johann Friedrich Meckel, the Younger (1781-1833).

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28.

Mecke S et. al. (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

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29.

Hsia YE et. al. (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica).

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30.

Walbaum R et. al. (1967) [Familial polydactyly with neuro-cranial dysplasia].

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31.

Tucker CC et. al. (1966) Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

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32.

Simopoulos AP et. al. (1967) Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.

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33.

None (1984) Johann Friedrich Meckel the Younger (1781-1833).

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34.

None (1984) Gross anatomical studies of a newborn infant with the Meckel syndrome.

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35.

Lurie IW et. al. (1984) Meckel syndrome in different populations.

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36.

Salonen R et. al. (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects.

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37.

Majewski F et. al. (1983) Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

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38.

Fryns JP et. al. (1980) Prenatal diagnosis of Meckel syndrome.

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39.

Verjaal M et. al. (1980) Oligohydramnios hampering prenatal diagnosis of Meckel syndrome.

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40.

Fraser FC et. al. (1981) Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

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41.

None (1981) Phenotypic variation in Meckel syndrome.

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42.

Plauchu H et. al. (1981) [Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

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43.

Summers MC et. al. (1995) Dandy-Walker malformation in the Meckel syndrome.

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44.

Nelson J et. al. (1994) Polydactyly in a carrier of the gene for the Meckel syndrome.

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45.

Wright C et. al. (1994) Meckel syndrome: what are the minimum diagnostic criteria?

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46.

None (1993) On Saraiva and Baraitser and Joubert syndrome: a review.

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47.

Genuardi M et. al. (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

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48.

Al-Gazali LI et. al. (1996) Meckel syndrome and Dandy Walker malformation.

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49.

Paavola P et. al. (1997) Clinical and genetic heterogeneity in Meckel syndrome.

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50.

Gulati R et. al. (1997) Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?

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51.

Castilla EE et. al. (1998) Associated anomalies in individuals with polydactyly.

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52.

Paavola P et. al. (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

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53.

Opitz JM et. al. (2006) Meckel on developmental pathology.

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54.

Logan CV et. al. (2011) Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

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Update: Sept. 26, 2018