Acronym MKS6 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

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]

Joubert syndrome 9 (JBTS9) [MIM:612285]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. [genecards.org]

TEST CHARACTERISTICS 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) Nearly 100%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) Nearly 100%. 2.3 Clinical sensitivity (proportion [nature.com]

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

• Liver Fibrosis

  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]

• Kidney Failure

  Most often, affected infants die of respiratory problems or kidney failure. [ncbi.nlm.nih.gov]

  Most often, affected infants die of respiratory problems or kidney failure. Frequency Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. [medlineplus.gov]

  Most affected infants die of kidney failure or respiratory problems. Parents sometimes choose to terminate a pregnancy when a fetus with Meckle syndrome is diagnosed during pregnancy. [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]

• Occipital Encephalocele

  The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly [ncbi.nlm.nih.gov]

  Meckel syndrome, type 6 is a severe congenital disorder defined by the presence of occipital encephalocele, cystic dysplasia of the kidneys, hepatic fibrosis and bile duct proliferation, and postaxial polydactyly of the hands and feet. [cags.org.ae]

  Characteristic findings include occipital encephalocele, polycystic kidneys and post axial polydactyly [3]. The mean gestation age at diagnosis is 14 weeks [5]. [heighpubs.org]

  Occipital encephalocele may result in accumulation of excessive cerebrospinal fluid (CSF) in the skull, which causes pressure on the tissues of the brain (hydrocephaly). [rarediseases.org]

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]

Currently there is no cure for Meckel syndrome and treatment is focused on alleviating symptoms. Affected families may also benefit from genetic counselling. [cags.org.ae]

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]

TTC21B, TTC25, TTC8, TWIST1, UBE2T, UBR1, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT5A, XRCC2, ZEB2, ZFPM2, ZIC3, ZMYND10, ZNF423 Clinical Utility: Molecular confirmation of a clinical diagnosis Identification of at-risk family members Assist with treatment [genedx.com]

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]

The prognosis of the disorder remains poor, with most cases resulting in in-utero or perinatal death. MKS does not have a gender bias and is found to affect between 1/13,250 to 1/140,000 live births. [cags.org.ae]

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]

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]