Klinik und Genetik des Joubert-syndroms

Translated title of the contribution: Clinical features and genetics of Joubert syndrome

Y. Hellenbroich*, S. K. Frost, G. Gillessen-Kaesbach

*Corresponding author for this work


Joubert syndrome generally represents an autosomal recessive and rarely X-linked disorder characterized by hypotonia, an irregular breathing pattern, abnormal eye movements, ataxia, developmental delay and a complex mid-hindbrain malformation causing the molar tooth sign on magnetic resonance imaging (MRI). Many patients have additional features, with nephronophthisis, retinal dystrophy, coloboma and hepatic fibrosis representing the most frequent features. Due to its clinical variability and overlap with other syndromes, the term "Joubert syndrome and related disorders" (JSRD) was proposed. To date 10 genes are known to cause JSRD. The encoded proteins are localized to cilia, linking JSRD to other human ciliopathies.

Translated title of the contributionClinical features and genetics of Joubert syndrome
Original languageGerman
JournalMedizinische Genetik
Issue number3
Pages (from-to)345-350
Number of pages6
Publication statusPublished - 01.09.2010

Research Areas and Centers

  • Research Area: Medical Genetics


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