The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. [books.google.com]

UniProtKB/Swiss-Prot : 76 Joubert syndrome 15: An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. [malacards.org]

The unifying pathognomonic sign is a cerebellar vermis hypoplasia presenting in MRI as the so called “molar tooth sign”. Approximately 25% of patients with JS present with NPH depending on the underlying genetic defect. [neocyst.de]

Interpretation: Head titubation is a benign, early presentation of Joubert syndrome. Head titubation in hypotonic infants should prompt a careful search for Joubert syndrome. [utexas.influuent.utsystem.edu]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

• Psychomotor Retardation

  View Article PubMed Google Scholar Varadi V, Szabo L, Papp Z: Syndrome of polydactyly cleft lip/palate or lingual lump and psychomotor retardation in endogamic gypsies. J Med Genet. 1980, 17: 119-122. 10.1136/jmg.17.2.119. [ojrd.biomedcentral.com]

• Abnormal Renal Function

  Renal Function 1693 Endocrine and Growth Disorders in Chronic Kidney Disease 1713 Chronic Kidney Disease Mineral and Bone Disorder 1755 Peritoneal Dialysis 1785 Hemodialysis 1817 Transplantation Immunobiology 1835 Pediatric Kidney Transplantation 1867 [books.google.com]

State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery. [books.google.com]

Chest physical therapy, antibiotics, inhalation treatments, and enriched diets are few of many treatment options. Return to the top of this page. [kveller.com]

Monitoring of eye movements and vision treatment are also beneficial for some infants. However, there is no specified course of treatment for the Joubert Syndrome. [syndromespedia.com]

Treatment of chronic renal failure with renal replacement therapy and renal transplantation. In case of hepatic failure liver transplantation might be necessary. Known genes for Joubert syndrome to date sources Romani M, Micalizzi A, Valente EM. [neocyst.de]

Research and development of new treatments for Joubert Syndrome is currently underway. [babymed.com]

Diagnosis - Joubert Syndrome Prognosis - Joubert Syndrome The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent, as well as on the extent and severity of other organ involvement [checkorphan.org]

Patients with associated retinal dysplasia appear to have a poorer prognosis 5. [radiopaedia.org]

Prognosis Prognosis is favorable for moderate forms of the disease. Management of patients with more severe forms should be carried out at a specialized reference centre. [orpha.net]

Prognosis of Joubert Syndrome The prognosis of the infants for Joubert Syndrome entirely depends upon the severity of the syndrome. [syndromespedia.com]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Etiology The syndrome is genetically heterogeneous. [orpha.net]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

There are epidemiological differences in the level and extent of the abnormality. [link.springer.com]

Summary Epidemiology Prevalence is estimated at approximately 1/100,000. Clinical description In the neonatal period, the disease often manifests by an irregular breathing pattern (episodic tachypnea and/or apnea), and nystagmus. [orpha.net]

Nephrotoxins 1275 Urinary Tract Infections 1299 Vesicoureteral Reflux and Renal Scarring 1311 Obstructive Uropathy 1337 Bladder Dysfunction in Children 1379 Urolithiasis 1405 Pediatric Renal Tumors 1431 Epidemiology of Hypertension 1459 Pathophysiology [books.google.com]

Their classification, genetic features and pathophysiology] Rev Neurol. 2005 Oct 1-15 Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. [patient.info]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Symptoms - Joubert Syndrome Causes - Joubert Syndrome Prevention - Joubert Syndrome Not supplied. [checkorphan.org]

Genetic counseling is an important clinical tool for preventing new cases, especially for couples with an affected first child. The risk of having an affected child in further pregnancies is 25%. [orpha.net]

The paper describes a genetic change that prevents interaction between two particular cilia proteins, presumably disrupting cilia function and causing JS. [news-medical.net]