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

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]

The number of MKS patients per registry is presented in Table 2. [nature.com]

The typical presentation of MGS involves the clinical triad of meningo-encephalocoele, enlarged polycystic kidneys and post axial polydactyly. To ascertain the diagnosis, 2 of the 3 major abnormalities should be present. [tandfonline.com]

• Splenomegaly

  […] female Ambiguous genitalia, male Congenital uterine anomaly Cryptorchidism Cystic renal dysplasia External genital hypoplasia Hypoplasia of the bladder Polycystic kidney disease Renal agenesis Abnormality of the immune system Accessory spleen Asplenia Splenomegaly [ncbi.nlm.nih.gov]

• Short Neck

  Short Neck: This syndrome shows distinctive features related to an abnormality of the bones, such as a short neck. Clinodactyly: It is a congenital defect affecting smaller bones, such as the little finger, that causes the bone to curve to one side. [icliniq.com]

  [from OMIM] Show allHide all Abnormality of head or neck Broad forehead Cleft palate Cleft upper lip Enlarged naris Epicanthus inversus Lobulated tongue Natal tooth Short neck Sloping forehead Smooth philtrum Thin upper lip vermilion Webbed neck Wide [ncbi.nlm.nih.gov]

  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]

• Cesarean Section

  An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5 th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. [tandfonline.com]

  A healthy boy was delivered by cesarean section at 39 weeks’ gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. [journals.plos.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]

The symptoms of the condition are fatal, and there are no curative treatment options available for it. [icliniq.com]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [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]

What is the prognosis for an individual with an MKS1-related Disorder? Meckel-Gruber syndrome is a lethal condition, and prognosis is poor. Those affected are either stillborn or die in the first few hours or days of life. [myriad.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: 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]

Prognosis [ 3 ] The survival of people with Down's syndrome has dramatically increased in the past few decades, largely as a result of improved surgical repair of congenital heart defects. [patient.info]

The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies. [tandfonline.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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]

There are etiological factors affecting this syndrome, such as: The human body is made of cells, and each cell has genetic material known as DNA (deoxyribonucleic acid) at the center of the cell, called the nucleus. [icliniq.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]

Etiologic heterogeneity of neural to be defects: clues from epidemiology. Am J Epidemiol, 115 (1982), pp. 538-548 [32.] M.J. Seller. Neural tube defects: are neurulation and canalization froms causally distinct?. [elsevier.es]

Barisic I, Tokic V, Loane M et al: Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet 2008; 146: 51–59. [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]

Epidemiology Incidence Down's syndrome is one of the most common genetic disorders, affecting 1 in 650-1,000 [ 5 ]. The underlying genetic defect is trisomy 21 in 94% of cases. [patient.info]

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]

Etiologic heterogeneity of neural to be defects: clues from epidemiology. Am J Epidemiol, 115 (1982), pp. 538-548 [32.] M.J. Seller. Neural tube defects: are neurulation and canalization froms causally distinct?. [elsevier.es]

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]

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes Discovery of gene that causes Meckel-Gruber syndrome Study implicates Fritz's role in human genetic disorders High Intensity Interval Training (HIIT) could prevent cognitive [news-medical.net]