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Bookmark or Share- Meckel-Gruber syndrome - NIH Genetic Testing Registry (GTR) - NCBIA rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosi...
- Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management ...Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium.
- Meckel syndrome - MedlinePlusMeckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. 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 ...
- Meckel syndrome | About the Disease | GARD - Genetic and Rare Diseases ...When Do Symptoms of Meckel syndrome Begin? Symptoms of this disease may start to appear during Pregnancy. The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age.
- Meckel–Gruber syndrome - WikipediaMeckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
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