Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which sh...

[Lowe's oculo-cerebro-renal syndrome].

Speech difficulties in Joubert syndrome

Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been l...

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.

Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging from hypoplasia to aplasia. Interestingly, ciliary conditional mutant mice have a hypoplastic cerebellum in which the proliferation of cerebellar granule cell progenitors (GCPs) in response to Sonic hedgehog (SHH) is severely reduced. This suggests that ...

Joubert Syndrome and related disorders

Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, ma...