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]

Joubert syndrome 6 (JBTS6) [MIM:610688]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. [genecards.org]

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]

• Liver Fibrosis

  Associated abnormalities include oral clefting, genital anomalies, CNS malformations and liver fibrosis. Mortality rate is 100% with most fetuses surviving only few days to weeks. Pulmonary hypoplasia is the leading cause of death. [surgexppathol.biomedcentral.com]

  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]

  Additional Disease Information for TMEM67 Genes that share disorders with TMEM67: view No data available for Genatlas for TMEM67 Gene Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). [genecards.org]

  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]

• Cesarean Section

  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]

• Occipital Encephalocele

  MKS is characterized by triad of large polycystic kidneys (100%), occipital encephalocele (90%), and postaxial polydactyly (83.3%) (Sergi et al. 2000). [surgexppathol.biomedcentral.com]

  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]

  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 [medlineplus.gov]

  Meckel-Gruber syndrome (MKS, MIM 249000) comprises a group of monogenic disorders that result in cystic dysplasia of the kidneys with fibrotic changes in the liver and occipital encephalocele or some other malformation of the central nervous system. [journals.plos.org]

  Abstract Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. [nature.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]

[…] 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]

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. [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]

Hum Genet 101:88–92 CAS Article Google Scholar Salonen R, Norio R (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. [surgexppathol.biomedcentral.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]