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]

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

METHODS: Given the fact that mutations in BBS genes have already been found in Meckel-like fetuses, and in light of the major contribution of BBS10 to BBS, the BBS10 gene was sequenced in 20 fetal cases and a child diagnosed antenatally presenting with [institutimagine.org]

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]

• Developmental Delay

  Joubert syndrome (JS) is characterized by three primary findings: a distinctive cerebellar and brain stem malformation called the molar tooth sign, hypotonia, and developmental delays. [centogene.com]

• Cryptorchidism

  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]

  […] photophobia, hyperopia and keratoconus McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly, congenital heart disease, and hydrometrocolpos in females and genital malformations in males (most commonly hypospadias, cryptorchidism [centogene.com]

  Other genitourinary anomalies may include agenesis, atresia, hypoplasia and duplication of ureters, severe hypoplasia of male genitalia with cryptorchidism, epididymal cysts and the absence or hypoplasia of urinary bladder. [ncbi.nlm.nih.gov]

[…] 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]

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]

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

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]

After discussing the prognosis, the patient opted for termination of pregnancy. An informed consent was obtained from the patient for the procedure and fetal autopsy along with histopathological examination of the specimens. [ncbi.nlm.nih.gov]

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]

Roux Arch Entwicklungsmech 144:626–642 Google Scholar Holmes LB, Driscoll SG, Atkins L (1976) Etiologic heterogeneity of neural tube defects. [link.springer.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]

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]

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]

Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis. Am J Med Genet 1994;53:46-51. PMID 7802035 60 Martinez-Frias ML, Frias JL, Opitz JM. Errors of morphogenesis and developmental field theory. [medlink.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]

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]