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Pediatrics44 papers

NPHP3-related Meckel-like syndrome

Last edited: 4/14/2026

Overview

Meckel-Gruber syndrome (MKS) is a rare, lethal autosomal recessive disorder characterized by the triad of occipital encephalocele, polycystic kidneys, and post-axial polydactyly. Additional features can include Dandy-Walker malformation, gastrointestinal anomalies, and hepatic fibrosis 124101620.

Diagnosis

  • Key Diagnostic Criteria: Occipital encephalocele, polycystic kidneys, and post-axial polydactyly 12520.
  • Recommended Tests:
    • - Ultrasonography: Essential for prenatal diagnosis, typically identifying features in the second trimester 4111526. - Alpha-fetoprotein (AFP) Assay: Used in conjunction with ultrasonography for prenatal screening 26.
  • Grading: Prenatal diagnosis often relies on imaging findings; definitive diagnosis usually requires postmortem examination 27.

    • Management

  • First-Line Treatments:
    • - Supportive Care: Focus on managing symptoms and providing comfort care due to the lethal nature of the syndrome 613.
  • Adjunctive Treatments:
    • - Surgical Intervention: In rare cases where specific anomalies like encephalocele are addressed prenatally or postnatally, surgical repair may be attempted 13. - Genetic Counseling: Essential for families with recurrent cases or consanguinity 1315.

    Special Populations

  • Pregnancy:
    • - Prenatal Diagnosis: Critical for informed decision-making and management planning 4111526.
  • Pediatrics:
    • - Survival: Extremely rare; survival beyond neonatal period is exceptional and often requires intensive surgical and medical interventions 13.
  • Comorbidities:
    • - Recurrent Cases: Higher incidence in consanguineous marriages, highlighting the importance of genetic screening 1315.

    Key Recommendations

  • Prenatal Ultrasonography Should Be Routinely Performed to diagnose Meckel-Gruber syndrome, especially in high-risk populations (Evidence: Moderate 4111526).
  • Genetic Counseling is Essential for families with a history of MKS or consanguinity to assess recurrence risk (Evidence: Moderate 1315).
  • Supportive and Symptomatic Care Should Be Provided to neonates diagnosed with MKS, given the typically lethal course of the disease (Evidence: Expert opinion 613).

    • References

    1 Alsamal M, Zitoun OA, Abdulghani EA, Sula I. Meckel-Gruber syndrome together with Dandy-Walker malformation: an atypical case report of a 2nd recurrence in a consanguine marriage. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024. link 2 Ramachandran U, Malla T, Joshi KS. Meckel-Gruber syndrome. Kathmandu University medical journal (KUMJ) 2006. link 3 de Silva MV, Senanayake H, Siriwardana KD. Meckel Gruber syndrome: occurrence in non-consanguineous marriages. The Ceylon medical journal 2004. link 4 Balci S, Tekşen F, Dökmeci F, Cengiz B, Cömert RB, Can B et al.. Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation. The Turkish journal of pediatrics 2004. link 5 Ergür AT, Taş F, Yildiz E, Kiliç F, Sezgin I. Meckel-gruber syndrome associated with gastrointestinal tractus anomaly. The Turkish journal of pediatrics 2004. link 6 Gazioğlu N, Vural M, Seçkin MS, Tüysüz B, Akpir E, Kuday C et al.. Meckel-Gruber syndrome. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1998. link 7 Vince JD, Baki M, Chakravarti P. Meckel-Gruber syndrome: report of an affected Papua New Guinean family. Papua and New Guinea medical journal 1998. link 8 Shanks J, Kerr B, Russell SA, Kingston H, Moore L. Skeletal abnormalities in Meckel syndrome. Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association 1997. link 9 Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S et al.. Clinical and genetic heterogeneity in Meckel syndrome. Human genetics 1997. link 10 Al-Gazali LI, Abdel Raziq A, Al-Shather W, Shahzadi R, Azhar N. Meckel syndrome and Dandy Walker malformation. Clinical dysmorphology 1996. link 11 Braithwaite JM, Economides DL. First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case. Prenatal diagnosis 1995. link 12 Nelson J, Nevin NC, Hanna EJ. Polydactyly in a carrier of the gene for the Meckel syndrome. American journal of medical genetics 1994. link 13 Kaplan M, Ben-Neriah Z, Achiron R. Survival in an infant with a prenatally diagnosed Meckel syndrome variant. American journal of perinatology 1993. link 14 Balci S, Onol B, Erçal MD, Beksaç S, Erzen C, Akhan O. Meckel Gruber syndrome: a case diagnosed in utero. The Turkish journal of pediatrics 1992. link 15 Ramadani HM, Nasrat HA. Prenatal diagnosis of recurrent Meckel syndrome. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 1992. link90265-k) 16 Walpole IR, Goldblatt J, Hockey A, Knowles S. Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?. American journal of medical genetics 1991. link 17 Farag TI, Usha R, Uma R, Mady SA, al-Nagdy K, el-Badramany MH. Phenotypic variability in Meckel-Gruber syndrome. Clinical genetics 1990. link 18 Ahdab-Barmada M, Claassen D. A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. Journal of neuropathology and experimental neurology 1990. link 19 Shen-Schwarz S, Dave H. Meckel syndrome with polysplenia: case report and review of the literature. American journal of medical genetics 1988. link 20 Ueda N, Sasaki N, Sugita A, Gotoh N, Yamamoto S, Yano T et al.. Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. Acta pathologica japonica 1987. link 21 Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick JE. Pathology of renal and hepatic anomalies in Meckel syndrome. American journal of medical genetics. Supplement 1987. link 22 Rapola J, Salonen R. Visceral anomalies in the Meckel syndrome. Teratology 1985. link 23 Pettersen JC. Gross anatomical studies of a newborn infant with the Meckel syndrome. American journal of medical genetics 1984. link 24 Salonen R, Norio R. The Meckel syndrome in Finland: epidemiologic and genetic aspects. American journal of medical genetics 1984. link 25 Lurie IW, Prytkov AN, Meldere LV. Meckel syndrome in different populations. American journal of medical genetics 1984. link 26 Johnson VP, Holzwarth DR. Prenatal diagnosis of Meckel syndrome: case reports and literature review. American journal of medical genetics 1984. link 27 Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. American journal of medical genetics 1984. link 28 Aleksic S, Budzilovich G, Greco MA, Reuben R, Feigin I, Pearson J et al.. Cerebellocele and associated central nervous system anomalies in the Meckel syndrome. Child's brain 1984. link 29 Seppänen U, Herva R. Roentgenologic features of the Meckel syndrome. Pediatric radiology 1983. link 30 Lowry RB, Hill RH, Tischler B. Survival and spectrum of anomalies in the Meckel syndrome. American journal of medical genetics 1983. link 31 Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM. The Meckel Syndrome. Pathological and cytogenetic observations in eight cases. Human genetics 1982. link 32 Seller MJ. Phenotypic variation in Meckel syndrome. Clinical genetics 1981. link 33 Schurig V, Bowen P, Harley F, Schiff D. The Meckel syndrome in the Hutterites. American journal of medical genetics 1980. link 34 Altmann P, Wagenbichler P, Schaller A. A casuistic report on the Gruber or Meckel syndrome. Human genetics 1977. link

    Original source

    1. [1]
      Meckel-Gruber syndrome together with Dandy-Walker malformation: an atypical case report of a 2nd recurrence in a consanguine marriage. — Alsamal M, Zitoun OA, Abdulghani EA, Sula I Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2024)
    2. [2]
      Meckel-Gruber syndrome. — Ramachandran U, Malla T, Joshi KS Kathmandu University medical journal (KUMJ) (2006)
    3. [3]
      Meckel Gruber syndrome: occurrence in non-consanguineous marriages. — de Silva MV, Senanayake H, Siriwardana KD The Ceylon medical journal (2004)
    4. [4]
      Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation. — Balci S, Tekşen F, Dökmeci F, Cengiz B, Cömert RB, Can B et al. The Turkish journal of pediatrics (2004)
    5. [5]
      Meckel-gruber syndrome associated with gastrointestinal tractus anomaly. — Ergür AT, Taş F, Yildiz E, Kiliç F, Sezgin I The Turkish journal of pediatrics (2004)
    6. [6]
      Meckel-Gruber syndrome. — Gazioğlu N, Vural M, Seçkin MS, Tüysüz B, Akpir E, Kuday C et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (1998)
    7. [7]
      Meckel-Gruber syndrome: report of an affected Papua New Guinean family. — Vince JD, Baki M, Chakravarti P Papua and New Guinea medical journal (1998)
    8. [8]
      Skeletal abnormalities in Meckel syndrome. — Shanks J, Kerr B, Russell SA, Kingston H, Moore L Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association (1997)
    9. [9]
      Clinical and genetic heterogeneity in Meckel syndrome. — Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S et al. Human genetics (1997)
    10. [10]
      Meckel syndrome and Dandy Walker malformation. — Al-Gazali LI, Abdel Raziq A, Al-Shather W, Shahzadi R, Azhar N Clinical dysmorphology (1996)
    11. [11]
      First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case. — Braithwaite JM, Economides DL Prenatal diagnosis (1995)
    12. [12]
      Polydactyly in a carrier of the gene for the Meckel syndrome. — Nelson J, Nevin NC, Hanna EJ American journal of medical genetics (1994)
    13. [13]
      Survival in an infant with a prenatally diagnosed Meckel syndrome variant. — Kaplan M, Ben-Neriah Z, Achiron R American journal of perinatology (1993)
    14. [14]
      Meckel Gruber syndrome: a case diagnosed in utero. — Balci S, Onol B, Erçal MD, Beksaç S, Erzen C, Akhan O The Turkish journal of pediatrics (1992)
    15. [15]
      Prenatal diagnosis of recurrent Meckel syndrome. — Ramadani HM, Nasrat HA International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics (1992)
    16. [16]
      Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? — Walpole IR, Goldblatt J, Hockey A, Knowles S American journal of medical genetics (1991)
    17. [17]
      Phenotypic variability in Meckel-Gruber syndrome. — Farag TI, Usha R, Uma R, Mady SA, al-Nagdy K, el-Badramany MH Clinical genetics (1990)
    18. [18]
      A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. — Ahdab-Barmada M, Claassen D Journal of neuropathology and experimental neurology (1990)
    19. [19]
      Meckel syndrome with polysplenia: case report and review of the literature. — Shen-Schwarz S, Dave H American journal of medical genetics (1988)
    20. [20]
      Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. — Ueda N, Sasaki N, Sugita A, Gotoh N, Yamamoto S, Yano T et al. Acta pathologica japonica (1987)
    21. [21]
      Pathology of renal and hepatic anomalies in Meckel syndrome. — Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick JE American journal of medical genetics. Supplement (1987)
    22. [22]
      Visceral anomalies in the Meckel syndrome. — Rapola J, Salonen R Teratology (1985)
    23. [23]
      Gross anatomical studies of a newborn infant with the Meckel syndrome. — Pettersen JC American journal of medical genetics (1984)
    24. [24]
      The Meckel syndrome in Finland: epidemiologic and genetic aspects. — Salonen R, Norio R American journal of medical genetics (1984)
    25. [25]
      Meckel syndrome in different populations. — Lurie IW, Prytkov AN, Meldere LV American journal of medical genetics (1984)
    26. [26]
      Prenatal diagnosis of Meckel syndrome: case reports and literature review. — Johnson VP, Holzwarth DR American journal of medical genetics (1984)
    27. [27]
      The Meckel syndrome: clinicopathological findings in 67 patients. — Salonen R American journal of medical genetics (1984)
    28. [28]
      Cerebellocele and associated central nervous system anomalies in the Meckel syndrome. — Aleksic S, Budzilovich G, Greco MA, Reuben R, Feigin I, Pearson J et al. Child's brain (1984)
    29. [29]
      Roentgenologic features of the Meckel syndrome. — Seppänen U, Herva R Pediatric radiology (1983)
    30. [30]
      Survival and spectrum of anomalies in the Meckel syndrome. — Lowry RB, Hill RH, Tischler B American journal of medical genetics (1983)
    31. [31]
      The Meckel Syndrome. Pathological and cytogenetic observations in eight cases. — Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM Human genetics (1982)
    32. [32]
      Phenotypic variation in Meckel syndrome. — Seller MJ Clinical genetics (1981)
    33. [33]
      The Meckel syndrome in the Hutterites. — Schurig V, Bowen P, Harley F, Schiff D American journal of medical genetics (1980)
    34. [34]
      A casuistic report on the Gruber or Meckel syndrome. — Altmann P, Wagenbichler P, Schaller A Human genetics (1977)
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