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Topic: Joubert syndrome

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In the News (Wed 19 Jun 19)

  BBC - Health - Conditions - Joubert syndrome
Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain.
Joubert syndrome is more likely to occur in consanguineous families, where the parents are related (and where the faulty gene runs in the family).
Joubert syndrome cannot be cured, but treatment is very important to help with symptoms such as breathing problems and to support the child in their development.
www.bbc.co.uk /health/conditions/joubert1.shtml   (616 words)

 Indian Pediatrics - Case Reports
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.
Marie Joubert and associates in 1969 were the first to describe this syndrome which included episodic hyperpnea, abnormal eye movements, ataxia and mental retardation with agenesis of cerebellar vermis in 4 siblings and 1 sporadic case(2).
Joubert’s syndrome with retinal dysplasia: Neonatal tachypnea as the clue to a genetic brain-eye malformation.
www.indianpediatrics.net /sept2001/sept-1045-1049.htm   (1190 words)

 Joubert Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the
Most cases of Joubert syndrome are sporadic (in other words, no other family member has the disorder), but in some families, Joubert syndrome appears to be inherited via a recessive gene.
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is entirely absent or partially developed.
www.ninds.nih.gov /disorders/joubert/joubert.htm   (402 words)

 Joubert Syndrome - WrongDiagnosis.com
Joubert Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination.
Two genes that are mutated in individuals with Joubert syndrome have been identified.
www.wrongdiagnosis.com /j/joubert_syndrome/intro.htm   (715 words)

 Joubert Syndrome
Joubert Syndrome is a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination.
Joubert Syndrome is characterized by periods of cessation of breathing during sleep (sleep apnea).
Dandy-Walker Syndrome is a rare inherited disorder that is characterized by congenital hydrocephalus that is an accumulation of fluid in the brain and an increase of pressure within the skull.
hw.healthdialog.com /kbase/nord/nord20.htm   (1110 words)

 RedOrbit - Health - Joubert Syndrome: Long-Term Follow-Up
Orofacial digital syndrome also needs to be considered as potentially overlapping with Joubert syndrome; Smith and Gardner- Medwin (1993) describe a brother and a sister with learning disability,* malformations of the cerebellar, characteristic metronome eye movements, lingual hamartomas, and postaxial polydactyly.
(1994) Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo- encephalohepato-renal disorders.
(1984) A syndrome of congenital retinal dystrophy and saccade palsy - a subset of Leber's amaurosis.
www.redorbit.com /news/display?id=98876   (4537 words)

 Baylor Neurology Case of the Month
The "Joubert syndrome" of episodic hyperpnea, cerebellar vermian dysgenesis with ataxia, and developmental delay was described by Joubert et al.
The facial appearance in patients with Joubert syndrome may be near-normal, or may include high, rounded eyebrows, broadening of the nasal bridge, and mild epicanthus.
To date, there are no well-accepted animal models for the Joubert syndrome, although knockout of the cerebellar development gene WNT, as well as knockdown of a zinc finger protein (Zic1) expressed in the dorsal neural tube, have been reported to cause cerebellar vermian maldevelopment in mice.
www.bcm.edu /neurol/challeng/pat59/summary.html   (1330 words)

 Joubert syndrome: Report of a neonatal case
Joubert syndrome is an autosomal recessive disorder that is characterized by a variable combination of central nervous system, respiratory and eye anomalies.
It is a syndrome with a variable phenotype: partial or complete absence of the cerebellar vermis is seen in all patients, while other cardinal findings include episodic tachypnea and apnea in the neonatal period, jerky eye movements, hypotonia, severe mental handicap, developmental delay, ataxia and impaired equilibrium.
A case of Joubert syndrome in a newborn is reported and the importance of recognizing the syndrome in the neonatal period so that specific and effective supportive measures can be started as soon as possible is stressed.
www.pulsus.com /Paeds/08_08/arkc_ed.htm   (303 words)

 JOUBERT SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders
Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness (see entry, Hypotonia), lack of muscle control (ataxia) and difficulty controlling horizontal eye movements (oculomotor apraxia).
Young infants with Joubert syndrome often have a characteristic appearance and have a large head, prominent forehead, high rounded eyebrows, broad nasal ridge, mild epicanthus, upturned nose with evident nostrils, open mouth and protruding tongue.
Joubert syndrome is inherited as an autosomal recessive trait.
www.cafamily.org.uk /Direct/j12.html   (870 words)

 UCSD Researchers Identify Chromosome Location for 2nd Form of Joubert Syndrome
Characterized by absence or underdevelopment of a brain region called the cerebellar vermis, and by a malformed brain stem, Joubert syndrome affects individuals to varying degrees across the spectrum of motor and mental development.
Joubert syndrome is inherited in an autosomal recessive manner, which means that both parents carry the mutant version of the gene, while showing no signs of the disease themselves.
Gleeson, who has studied Joubert syndrome for several years, noted “parents of affected children are just craving for information, to understand the basis for this disorder and something about the prognosis.
ucsdnews.ucsd.edu /newsrel/health/Joubert_Syndrom3.htm   (684 words)

 Joubert syndrome - someone with joubert syndrome
Joubert syndrome is a rare procedures for joubert syndrome genetic disorder that affects the area of the brain that controls balance and coordination.
Mutation someone joubert syndrome in gene of unknown function called AHI1 is associated with the majority of Jourbert syndrome cases.
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals differential diagnosis for joubert syndrome with Joubert syndrome.
www.medicalgeo.com /Med-Diseases-I---K/Joubert-syndrome.html   (356 words)

 Joubert's syndrome (www.whonamedit.com)
A rare familial syndrome characterised by episodic panting in the newborn and jerky eye movements in the neonatal period with later the development of mental retardation, cerebellar ataxia and episodic hyperpnoea with hyperventilation.
The syndrome is believed to be transmitted as an autosomal recessive trait.
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.
www.whonamedit.com /synd.cfm/2702.html   (239 words)

Joubert's syndrome is a rare condition in which the middle part of the cerebellum (the vermis) doesn't properly form.
ABSTRACT: Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements.
The syndrome was first described by Joubert and colleagues as a familial agenesis of the cerebellar vermis and appears to be inherited as an autosomal recessive trait.
www.indiana.edu /~pietsch/joubert.html   (2069 words)

The University of Washington Joubert center is engaged in genetic research to understand cerebellar conditions, including Joubert syndrome.
When we tested 80 children with Joubert syndrome whether or not they kidney involvement, we found a total of 2 children with this deletion.
However, it is important to remember that this is a very uncommon cause of Joubert syndrome, as probably less than 5% of children will have this gene deletion.
joubertsyndrome.washington.edu /research.html   (535 words)

 What is Joubert Syndrome?
Joubert Syndrome (JS) is a rare genetic disorder affecting less than 350 people in the world.
Because so little is known about Joubert Syndrome, we really have no idea when or if he will be able to speak efficiently.
The Joubert Syndrome Foundation is an international network of families who have children with JS.
www.allaboutjoey.com /what_is_joubert_syndrome.htm   (1384 words)

 Joubert Syndrome Project bits and bytes   (Site not responding. Last check: 2007-10-08)
Joubert Syndrome appears to be EXTREMELY RARE, with about 200 documented cases worldwide, and around 5 in South Africa.
Joubert Syndrome is an autosomal recessive genetic disorder
Joubert Syndrome is inherited in an autosomal recessive manner.
www.ruancrouse.org /js.htm   (1543 words)

 Medical Dictionary: Joubert syndrome - WrongDiagnosis.com
Joubert syndrome (medical condition): Rare genetic brain disorder affecting balance and coordination.
Joubert syndrome: Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap.
Joubert syndrome: Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination.
www.wrongdiagnosis.com /medical/joubert_syndrome.htm   (401 words)

 Discovery of the gene for a form of Joubert Syndrome   (Site not responding. Last check: 2007-10-08)
The AHI1 gene mutation is responsible for a form of Joubert Syndrome manifested by absence of part of the cerebellum, the part of the brain controlling balance, and by excessive folding in the cerebral cortex, the part of the brain controlling consciousness and thought.
Although Joubert Syndrome is relatively rare, we think that the genes causing this condition are going to underlie more common childhood brain and behavioral abnormalities, such as autism, mental retardation, and poor coordination" said the UCSD paper's senior author, Joseph Gleeson, M.D., assistant professor of neurosciences at UCSD and Children's Hospital San Diego.
The study was funded by the Joubert Syndrome Foundation and by grants from the March of Times and the National Institute of Neurological Disorders and Stroke.
www.news-medical.net /?id=5740   (609 words)

 ScienceDaily: UCSD Researchers Identify Chromosome Location For 2nd Form Of Joubert Syndrome   (Site not responding. Last check: 2007-10-08)
Restless Legs Syndrome Has Complex Genetic Involvement (April 21, 2005) -- A new study confirmed that a gene associated with restless legs syndrome (RLS) susceptibility is located on chromosome 12q and and also suggests that at least one other gene may be involved in...
Stem Cell Study Provides New Clues To Origin Of Down Syndrome (February 7, 2002) -- Using stem cells as a window to the earliest developmental processes in the human brain, scientists have found that a group of genes critical for brain development is selectively disrupted in Down...
Turner syndrome -- Turner syndrome is a human genetic abnormality, caused by a nondisjunction in the sex chromosomes that occurs in females (1 out of every 2,500 births).
www.sciencedaily.com /releases/2003/09/030905074003.htm   (1990 words)

 University of Washington Joubert Center   (Site not responding. Last check: 2007-10-08)
In one case, the fetus was suspected of having Joubert syndrome on the basis of prenatal imaging findings, which was later confirmed.
A Powerpoint presentation on prenatal diagnosis in Joubert syndrome was given by Drs.
We identified a strong correlation between a child having Joubert syndrome due to AHI1 gene changes and the development of retinal dystrophy in those individuals.
joubertsyndrome.washington.edu   (667 words)

 UCSD researchers identify chromosome location for 2nd form of Joubert syndrome
Physicians may be a step closer to pre-natal diagnosis of a rare genetic disorder called Joubert syndrome.
The study was performed collaboratively with the Marshfield Center for Genetics in Wisconsin and funded by the March of Dimes.
A sweet little girl who smiles when people talk to her, 4-year-old Saily Vargas of Paradise Hills in San Diego, is severely affected with Joubert syndrome.
www.eurekalert.org /pub_releases/2003-09/uoc--uri090303.php   (818 words)

 Joubert Syndrome Foundation & Related Cerebellar Disorders (via CobWeb/3.1 planetlab2.cs.unc.edu)   (Site not responding. Last check: 2007-10-08)
The Joubert Syndrome Foundation and Related Cerebellar Disorders is an international network of parents who share knowledge, experience, and emotional support.
The Joubert Syndrome Foundation and Related Cerebellar Disorders plays an important role in educating physicians and their support teams as well as increasing public awareness.
The Joubert Syndrome Foundation and Related Cerebellar Disorders is a nonprofit organization.
www.joubertsyndrome.org.cob-web.org:8888   (299 words)

 Joubert Syndrome - Patient UK
Joubert Syndrome - Patient UK PatientPlus articles are written for doctors and so the language can be technical.
A rare familial syndrome characterised by absence or malformation of the cerebellar vermis.
Joubert M et al; Familial agenesis of the cerebellar vermis.
www.patient.co.uk /showdoc/40001737   (459 words)

 TheFetus.net - Joubert syndrome -Philippe Jeanty, MD, PhD, Nashville, TN and Gianluigi Pilu, MD. Bologna, Italy
Marie Joubert described the syndrome in 1968 [18] -69 [19].
Siblings from the same family and even monozygotic twins [30] with Joubert syndrome may present with phenotypes ranging from severely handicapped to minimally handicapped.
Thus aside from vermal agenesis, Joubert syndrome may be associated with malformation of multiple brainstem structures.
www.thefetus.net /page.php?id=122   (1595 words)

 Genetic basis of Joubert syndrome and related disorders of cerebellar development -- Louie and Gleeson 14 (Supplement ...
Boltshauser, E. and Isler, W. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.
Verloes, A. and Lambotte, C. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.
(2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
hmg.oxfordjournals.org /cgi/content/full/14/suppl_2/R235   (5543 words)

 Joubert syndrome
Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria
Molar tooth malformation in a 16-month-old patient with Joubert syndrome
Joubert syndrome in an 18-month-old boy with delayed development and hypotonia
www.gfmer.ch /genetic_diseases_v2/gendis_detail_list.php?cat3=166   (106 words)

 Joubert Syndrome
Most cases are believed to be recessively inherited, that is, another offspring may have a 25% chance of having the problem.
Joubert syndrome may be confused with isolated cerebellar vermis hypoplasia wich is more common, and has a milder picture, and also with the Dandy Walker syndrome, in which there is a cystic enlargement of the fourth ventricle behind the cerebellum, and also hydrocephalus.
Besides the cognitive, visual, and motor deficits from Joubert's syndrome, the respiratory difficulty may be a major therapeutic concern.
www.medhelp.org /perl6/neuro/archive/1661.html   (363 words)

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