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Joubert and Meckel-Gruber syndromes Panel

Joubert and Meckel-Gruber syndromes Panel

Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are two recessive neurodevelopmental disorders characterized by high clinical and genetic variability. They belong to the large and heterogeneous group of ciliopathies, a set of syndromes in which congenital dysfunctions of the cellular ciliary apparatus interfere with the normal mechanisms of development, leading to systemic consequences.
People with JBTS, a rare condition, have a typical combination of brain signs called "molar tooth sign", which includes 1) deep interpeduncular fossa 2) thick, elongated superior cerebellar peduncles and 3) cerebellar vermis hypoplasia. The main feature of JBTS, in fact, is an abnormal development of the posterior brain structures, including the cerebellum and the brainstem. Infants affected early present with hypotonia and ataxia (inability to coordinate movements), respiratory rhythm irregularities, ocular motor apraxia (abnormal eye movements), delayed intellectual development, typical facial features and other abnormalities involving kidneys, skeleton, liver and endocrine system.
When we talk about Joubert Syndrome, we are not referring to a single pathological entity, but to a set of syndromes that go under the name of "Joubert Syndrome and related disorders" (JSRD).
Meckel-Gruber syndrome is a rare ciliopathy that predominantly affects kidneys (with the development of numerous fluid-filled cysts), brain (via occipital encephalocele) and skeletal system (polydactyly). Numerous other anomalies affecting the central nervous system, heart, liver, eyes and genital system can be associated with these signs.
JBTS and MKS are two related diseases that share numerous genes, suggesting that MKS is an extreme JBTS phenotype.
This panel analyzes the main genes associated with these two congenital syndromes.
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