Patients may present with sepsis or metastatic spread of septic emboli, most commonly occurring in the lung. This presentation may appear as acute respiratory distress syndrome (ARDS). [emedicine.medscape.com]

A disproportionately higher prevalence may be present in Finland, Belgium and in some parts of India. [radiopaedia.org]

We present a case of a patient that had two inducted abortions for Meckel Gruber syndrome. The diagnosis was confirmed pathohystologicaly. She also had two normal term pregnancies. [minervamedica.it]

Herein we describe two cases of MKS presenting as classical triad. [npplweb.com]

Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. [ncbi.nlm.nih.gov]

• Atrial Septal Defect

  Cardiac malformations may include atrial septal defect, aorta coarctation, patent arterial duct, and valvular pulmonary stenosis. Incomplete development of internal and external genitalia, and cryptorchidism in males are common. [orpha.net]

• Pain

  Rarely, they may have pain similar to that of trigeminal neuralgia. Spontaneous rupture of a carotid-cavernous aneurysm leads to an abrupt onset of a direct C-C fistula. [emedicine.medscape.com]

• Irritability

  […] cellulitis In addition to local and systemic signs of infection, the following may be seen: Isolated or combined ophthalmoplegia Painful ophthalmoplegia Orbital congestion, lid chemosis, proptosis Visual loss, optic disc edema (unilateral) Signs of meningeal irritation [emedicine.medscape.com]

[…] characteristics of the disease to be as follows [13] : Cystic kidneys (97.7%) Polydactyly (87.3%) Encephalocele (83.8%) Fibrotic/cystic changes of the liver (65.5%, as identified via postmortem examination) Other CNS anomalies (51.4%) Orofacial clefts (31.8%) Workup [emedicine.medscape.com]

Management and treatment No treatment is currently available for Meckel syndrome which has a constantly fatal outcome. [orpha.net]

Standard Therapies Treatment No curative treatment is currently available for Meckel syndrome which has a constantly fatal outcome due to renal failure and lung hypoplasia. Treatment is symptomatic and supportive. [rarediseases.org]

Treatment and prognosis The condition is almost always fatal at birth either because of pulmonary hypoplasia or neonatal renal failure 3,5. Parents can be counseled appropriately that the subsequent risk is 25%. [radiopaedia.org]

ICSI Procedure Ovarian stimulation was performed by hormonal treatment. [journals.plos.org]

It is mainly used when ultrasonography findings are inconclusive or are insufficient to guide treatment choices. Chromosome analysis is essential to exclude trisomy 13, which Meckel-Gruber syndrome mimics. [emedicine.medscape.com]

Treatment and prognosis The condition is almost always fatal at birth either because of pulmonary hypoplasia or neonatal renal failure 3,5. Parents can be counseled appropriately that the subsequent risk is 25%. [radiopaedia.org]

Prognosis MKS is lethal in utero or in the very early neonatal period with pulmonary hypoplasia and kidney failure as the main causes of early demise. * European Reference Network The documents contained in this web site are presented for information [orpha.net]

Prognosis: Meckel syndrome is a lethal disorder. Most infants are stillborn or die hours or days after birth. A few sometimes survive a few months with poor quality of life. [thefetus.net]

PMID: 27094752Free PMC Article Prognosis 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. [ncbi.nlm.nih.gov]

Because the prognosis is grim, with death occurring in utero or shortly after birth, prenatal diagnosis has led to therapeutic abortion of many affected fetuses. The mortality rate is 100%, with most fetuses surviving only a few days to weeks. [emedicine.medscape.com]

In recent years, the molecular etiology of the diseases in the ciliopathic group has been elucidated owing to the widespread use of next-generation sequencing technology. [liebertpub.com]

Etiology Defective ciliary biology underlies MKS. Mutations in many different cilia-related genes have been associated with this disorder, often in the context of consanguineous unions. [orpha.net]

[…] distention Abnormality of the eye Anophthalmia Microphthalmia Abnormality of the genitourinary system Hyperechogenic kidneys Abnormality of the musculoskeletal system Microcephaly Abnormality of the nervous system Encephalocele Ear malformation Low-set ears Etiology [ncbi.nlm.nih.gov]

Summary Epidemiology Prevalence is estimated at 1/38,500 births in Europe. [orpha.net]

The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet. 1984 Aug. 18(4):691-8. [QxMD MEDLINE Link]. Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984 Aug. 18(4):671-89. [emedicine.medscape.com]

The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet. 1984;18:691–698[pubmed] [5]Young ID, Rickett AB, Clarke M. [npplweb.com]

Crossref, Medline, Google Scholar Salonen R, Norio R (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 18:691–698. Crossref, Medline, Google Scholar Salonen R, Paavola P (1998) Meckel syndrome. [liebertpub.com]

Pathophysiology Failure of mesodermal induction has been suggested to cause Meckel-Gruber syndrome. The induction cascades of early morphogenesis involve numerous growth factors, homeobox genes, and paired domain genes. [emedicine.medscape.com]