Here, we describe a case of MKS presenting with the classical triad. Case presentation A 25 year old lady presented with missed abortion at 17 weeks of gestation on her first conception. [surgexppathol.biomedcentral.com]

Acronym MKS11 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

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

Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. ALMS1 is the only known gene associated with Alström syndrome 13 (see Table 1). [centogene.com]

Although all kind of pathogenic variants (missense and nonsense mutations, splice site mutations, deletions and insertions) are present, the majority is truncating, whereas in MKS3 also missense mutations are frequent. [nature.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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

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]

Live births die within the first hours or days of life. treatment not available Meckel - Gruber Syndrom genes known to date Disease OMIM Phenotype Nr Gene OMIM – Gene number alternative Phenotype + OMIM Phenotype Nr 1 MKS1 249000 MKS 1 609883 BBS13 615990 [neocyst.de]

The treatment and management of Meckel-Gruber syndrome includes only symptomatic approaches, such as cardiac or neurosurgical interventions, restoration of respiratory pathways. [centogene.com]

It is mainly used when ultrasonography findings are inconclusive or are insufficient to guide treatment choices. Atlhough MRI is useful in detecting the origin and extent of an abnormality, it must be performed after 18 weeks' gestation. [emedicine.medscape.com]

The exact pathomechanism remains to be elucidated. progress and prognosis High rates of intrauterine death. [neocyst.de]

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]

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]

Demonstration of genetic etiology of MKS requires advanced techniques than conventional karyotyping & FISH. MKS is a rare genetic disorder characterized by early fetal demise. [surgexppathol.biomedcentral.com]

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

Hum Genet 101:88–92 Article CAS Google Scholar Salonen R, Norio R (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. [surgexppathol.biomedcentral.com]

PMID: 17389183 The role of primary cilia in the pathophysiology of neural tube defects. Vogel TW, Carter CS, Abode-Iyamah K, Zhang Q, Robinson S. Neurosurg Focus. 2012 Oct;33(4):E2. PMID: 23025443 OMIM: 213300, 249000 [bredagenetics.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]

In Meckel-Gruber syndrome, the plates do not atrophy and prevent reorganization by the remaining biliary cells to form tubular ducts. The resultant fibrosis can be severe enough to occlude portal veins. [emedicine.medscape.com]