Joubert syndrome with hepatic disease is characterized by progressive hepatic fibrosis already presenting at birth. [centogene.com]

Notably, endocrine abnormalities including those observed in the present case have never been reported in KIF7-associated phenotypes (Table 2). [bmcpediatr.biomedcentral.com]

Acronym JBTS16 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Joubert syndrome presenting with motor delay and oculomotor apraxia. [eyewiki.aao.org]

How does the condition present and progress? Children with Joubert’s syndrome can have very variable features and problems, from relatively mild to very severe. [gosh.nhs.uk]

Is there any treatment? There is no treatment that can cure the underlying brain malformation and the resulting effects on the rest of the body. [gosh.nhs.uk]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Treatment of Joubert syndrome-affected patients is primarily symptomatic. Infants and children with abnormal breathing may require supplemental oxygen and mechanical support. [centogene.com]

Endocrine re-evaluation at 2 years, documented normal levels of fT4, TSH, ACTH, and cortisol; IGF1 levels were 92 ng/ml (under GH treatment). [bmcpediatr.biomedcentral.com]

Because JS has different phenotypic subtypes that affect different organs, prognosis and mortality in JS is largely dependent on the severity of the organs affected. [eyewiki.aao.org]

This indicates that the prognosis between JBTS and DWV is greatly different. Therefore, a definitive diagnosis between JBTS and DWV is critical for patient’s management, disease prediction, and genetic counseling. [hindawi.com]

Molecular genetic analysis along with imaging findings may be a good choice to help the early prenatal diagnosis and uncover the potential genetic etiology. [hindawi.com]

Etiology First described by Marie Joubert in 1969 (Joubert, 1969)[1], JS now is known to have multiple genetic causes and subtypes, all of which affect the structure and/or function of primary cilia. [eyewiki.aao.org]

[…] higher prevalence in French Canadians (Parisi, 2003; Brancati, 2010; Wang, 2018).[11][8] Other ethnic foci include the Dutch (Kroes, 2016),[12] Ashkenazi Jews (Edvardson, 2010),[13] Canadian Hutterites (Huang, 2011),[14] and Japanese (Suzuki, 2016).[15] Pathophysiology [eyewiki.aao.org]