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]

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

The spleen may be missing (asplenia), or be present as multiple small spleens, rather than a single (polyspenia). [rarediseases.org]

Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. [uniprot.org]

Joubert syndrome 28 (JBTS28) [MIM:617121]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. [genecards.org]

• Multiple Congenital Anomalies

  The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. 1995 Oct. 11(2):213-5. [Medline]. Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA. [emedicine.medscape.com]

  congenital anomalies and dysmorphic features.28 A medical geneticist (IB) reviewed all records. [nature.com]

• Liver Fibrosis

  Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. {ECO:0000269 PubMed:24886560}. [genecards.org]

  Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS28 inheritance is autosomal recessive. [uniprot.org]

  Associated abnormalities include oral clefting; genital anomalies; central nervous system (CNS) malformations, including Dandy-Walker and Arnold-Chiari malformation; and liver fibrosis. Pulmonary hypoplasia is the leading cause of death. [emedicine.medscape.com]

  This is in contrast with the assumption of some authors that cystic kidneys are an obligatory finding in MKS.5 Similarly, we recorded liver fibrosis and proliferation of bile ducts in 65.5% of cases in which pathological examination was performed. [nature.com]

• Trigeminal Neuralgia

  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]

• Neuralgia

  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]

[…] 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]

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]

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]

[…] outcome of pregnancy, fetus/infant characteristics including gender, survival up to 1 week of age, GA (in completed weeks) and birth weight (in grams), associated anomalies, family history, consanguinity, maternal and paternal age at delivery, fertility treatment [nature.com]

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]

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. [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]

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]