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]

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]

Various other anomalies were present in 64 (37%) patients. [nature.com]

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

Dear Editor, We wish to present our case of the rare Meckel-Gruber syndrome, diagnosed prenatally at 18 weeks’ gestation. Informed consent was obtained from both parents for publishing this case and including photos. [heighpubs.org]

• Hypertelorism

  Facial anomalies such as cleft lip, high arched palate and hypertelorism are also observed in many cases [2]. [heighpubs.org]

• Short Neck

  Affected infants may have distinctive facial features including an abnormally small jaw (micrognathia); enlarged, low-set and malformed ears; cleft palate; cleft lip; sloping forehead; and short neck. [rarediseases.org]

• Cryptorchidism

  Genital anomalies are hypoplastic penis, cryptorchidism, Mullerian-duct remnants and epididymal cysts in males. Septate vagina and hypoplastic or bicornuate uterus may, be associated in females. Pulmonary hypoplasia is the leading cause of death. [cags.org.ae]

  In some individuals, abnormalities of the genitourinary tract may be present including failure of the one or both testes to descend into the scrotum (cryptorchidism), underdeveloped (hypoplastic) bladder, and incomplete development of genitalia. [rarediseases.org]

[…] 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]

Treatment Unfortunately, there is no treatment for Meckel-Gruber syndrome because the child’s underdeveloped lungs and abnormal kidneys cannot support life. Almost 100% of newborns die within days to weeks after birth. [verywellhealth.com]

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]

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

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.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]

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]

Parents should be counseled about the high mortality and morbidity and poor prognosis for survival. Early diagnosis is important for the timely counseling of affected couples regarding their decision on pregnancy termination. [nature.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]

We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. [nature.com]

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]

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]

[provided by RefSeq, Sep 2009] Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. [genecards.org]

MKS1 Homo sapiens (Human) Status Reviewed-Annotation score: -Experimental evidence at protein leveli Functioni Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion [uniprot.org]