Clinical presentation Most individuals with Joubert syndrome present with hypotonia (decreased muscle tone) in infancy, which progresses to ataxia (lack of muscle control during voluntary movements) in early childhood. [news-medical.net]

A missense mutation within this domain has already been reported in a patient who presented with JS ( 3 ). [jasn.asnjournals.org]

The fact that most present day inhabitants of the Lower St. Lawrence region descend from this small group of settlers suggests a genetic founder effects. [sciencedaily.com]

In a minority of cases minor lateral ventriculomegaly (6-20% of cases) and corpus callosal dysgenesis (6-10% of cases) is also present 5,9. [radiopaedia.org]

A series of clinical photographs and a brief case report offer insight into the classic presentation of this uncommon disorder. [medscape.com]

• Atrial Septal Defect

  Article Google Scholar Elmali M, Ozmen Z, Ceyhun M, Tokatlioglu O, Incesu L, Diren B: Joubert syndrome with atrial septal defect and persistent left superior vena cava. Diagn Interv Radiol. 2007, 13: 94-96. [ojrd.biomedcentral.com]

• Tachypnea

  Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. [ncbi.nlm.nih.gov]

  Respiratory abnormalities are represented by short interchanging episodes of apnea and tachypnea, or episodic tachypnea alone. [news-medical.net]

  It presents with a distinct respiratory pattern and profound tachypnea in the newborn period. This article provides an overview of the condition and discusses the embryologic origins of this syndrome. [medscape.com]

  […] source] Classic Joubert syndrome (JS) is characterized by three primary findings:[3] A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS) Hypotonia Developmental delays Often these findings are accompanied by Episodic tachypnea [physio-pedia.com]

  Joubert’s syndrome with retinal dysplasia: Neonatal tachypnea as the clue to a genetic brain-eye malformation. Arch Dis Child 1984; 59: 709-718. 10. Quisling RG, Barkovich AJ, Maria BL. [indianpediatrics.net]

• Heart Disease

  disease, retinal pigmentation Table 2. [medscape.com]

• Macrocephaly

  Fibroblasts from CPLANE1-mutated patients show fewer and shorter cilia and a diminished response to a sonic hedgehog (SHH) agonist.11 Macrocephaly and facial widening are general signs of disturbed SHH signalling. [ng.neurology.org]

• Abnormal Eye Movement

  Joubert syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns and intellectual disability. [jsrdf.org]

  Joubert syndrome is a rare autosomal recessive disorder characterized by abnormal respiratory pattern and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem. [indianpediatrics.net]

  Presentation Onset is in early infancy with abnormally rapid breathing, jerky eye movements, mental retardation, hemifacial spasms, seizures and ataxia: Eyes: abnormal eye movements, chorioretinal coloboma, ptosis, and retinal dysplasia. [patient.info]

  Image 1: Anatomical Lobes of the Cerebellum The most common features of Joubert syndrome in infants include: Abnormally rapid breathing (hyperpnea), Decreased muscle tone (hypotonia), Abnormal eye movements, Impaired intellectual development Inability [physio-pedia.com]

  The most common signs in infants are: Abnormal eye movements, such as trouble moving the eyes from side to side. Fast breathing. Delayed intellectual and language development. [my.clevelandclinic.org]

• Hypertelorism

  He exhibited a broad and high forehead, hypertelorism, flat nasal root, thin upper lip, large chin, and broad toes (Figure 2C). He had no apparent oral findings. [ng.neurology.org]

  Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth. [medlineplus.gov]

  Distinctive facial features can also occur in Joubert syndrome ; these include a broad forehead, arched eyebrows, droopy eyelids ( ptosis ), widely spaced eyes ( hypertelorism ), low-set ears, and a triangle-shaped mouth. [ghr.nlm.nih.gov]

• Behavior Disorder

  Developmental delays, cognitive impairment, truncal ataxia, breathing irregularities, and behavioral disorders are among the more common features. Hyperactivity and aggressiveness combined with dependency require constant vigilance and care. [disorders.eyes.arizona.edu]

• Apraxia

  References Chapter Notes Authors: Melissa Parisi Ian Glass view full author information Show allHide all Abnormality of the digestive system Bile duct proliferation Hepatic fibrosis Abnormality of the eye Blindness Chorioretinal coloboma Oculomotor apraxia [ncbi.nlm.nih.gov]

  The eye abnormalities commonly observed in this disease are complete oculomotor apraxia, both in horizontal and vertical direc-tions and ocular coloboma. [indianpediatrics.net]

  […] hepatic fibrosis: usually as part of COACH syndrome polydactyly: 15% occipital (meningo) encephalocele Affected individuals usually present with ataxia and have dysmorphic facies, global developmental delay, hypotonia, rapid breathing and oculomotor apraxia [radiopaedia.org]

  Apraxia to some degree is common with most patients having difficulty with smooth pursuit and saccadic movements. Compensatory head thrusting is often observed. [disorders.eyes.arizona.edu]

  Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). [medlineplus.gov]

• Occipital Encephalocele

  Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [ncbi.nlm.nih.gov]

  Truncal ataxia Delayed acquisition of gross motor milestones Cognitive abilities are variable (ranging from severe intellectual disability to normal) Retinal dystrophy, Renal disease Ocular colobomas Occipital encephalocele Hepatic fibrosis Polydactyl [physio-pedia.com]

Management and Treatment Is there a cure for Joubert syndrome? There is no cure for Joubert syndrome. But your healthcare providers may recommend treatments to reduce symptoms and improve quality of life. [my.clevelandclinic.org]

Treatment Treatment Options: Treatment is mostly for specific symptoms such as respiratory distress, renal disease, speech and physical therapy, low vision, and hepatic failure. [disorders.eyes.arizona.edu]

Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions . [patient.info]

Investigational Therapies Precision treatments are treatments specifically targeting the genetic cause or biological mechanism of a disorder. [rarediseases.org]

Treatment and prognosis There is limited data available on the long-term outcome of children with Joubert syndrome. Persistent neuromotor developmental retardation is a feature of surviving individuals. [radiopaedia.org]

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

Management of the condition and prognosis Treatment for Joubert syndrome is mainly symptomatic and supportive, and must be individualized for each child’s unique needs. [news-medical.net]

Outlook / Prognosis What is the outlook for people with Joubert syndrome? The outlook for babies and children with Joubert syndrome depends on whether the cerebellar vermis is partially developed or completely absent. [my.clevelandclinic.org]

Prognosis This depends on the degree of malformation or agenesis of the cerebellar vermis. Some will have a mild form with mild physical disability and good mental development. [patient.info]

Since the prognosis of JS could be poor, prenatal diagnosis is necessary for the families with history of JS. The proband’s parents have sought genetic counseling in our center, and prenatal diagnosis of a subsequent pregnancy was performed. [hindawi.com]

The cerebellum is the part of the brain that controls balance and coordination; the cerebellar vermis is involved with posture and rhythmic modulation of stereotypical movements, such as walking. [15–17] Although the precise etiology of Joubert syndrome [medscape.com]

[…] syndrome is a rare autosomal recessive condition characterised by partial or complete absence of the cerebellar vermis, leading to neonatal breathing abnormalities, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. [ 2 ] Epidemiology [patient.info]

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]

Prevention Can I prevent Joubert syndrome? There is no way to prevent Joubert syndrome. But geneticists and genetic counselors can help determine who in your family may be at risk. [my.clevelandclinic.org]

Speech: While children with Joubert may appear to understand what is said to them, neurological impairments might prevent them from being able to use words in order to communicate. [disabled-world.com]

[provided by RefSeq, Sep 2009] Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. [genecards.org]

Speech Although he seems to understand what is said to him, Joey’s neurological impairments prevent him from being able to use words to communicate. [allaboutjoey.com]