Editing Joubert syndrome (section)

== Signs and symptoms ==
Most of the signs and symptoms of the Joubert syndrome appear very early in infancy with most children showing delays in gross motor milestones.<ref name=":1">{{Cite news|url=https://rarediseases.org/rare-diseases/joubert-syndrome/|title=Joubert Syndrome - NORD (National Organization for Rare Disorders)|newspaper=NORD (National Organization for Rare Disorders)|language=en-US|access-date=2016-12-19}}</ref> Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof. Consequently, the most common features include [[ataxia]] (lack of muscle control), [[hyperpnea]] (abnormal breathing patterns), [[sleep apnea]], abnormal eye and tongue movements, and [[hypotonia]] in early childhood. Other malformations such as [[polydactyly]] (extra fingers and toes), [[Cleft lip and cleft palate|cleft lip or palate]], tongue abnormalities, and [[seizure]]s may also occur. Developmental delays, including cognitive, are always present to some degree.<ref name=":0">{{cite journal | vauthors = Parisi MA, Doherty D, Chance PF, Glass IA | title = Joubert syndrome (and related disorders) (OMIM 213300) | journal = European Journal of Human Genetics | volume = 15 | issue = 5 | pages = 511–21 | date = May 2007 | pmid = 17377524 | doi = 10.1038/sj.ejhg.5201648 | doi-access = free }}</ref> Severe forms have been noted to include [[hypoplasia of the corpus callosum]].<ref>{{Cite web|url=https://www.omim.org/entry/213300|title=OMIM Entry - # 213300 - JOUBERT SYNDROME 1; JBTS1|website=www.omim.org|access-date=2019-12-22}}</ref><ref>{{cite journal | vauthors = Zamponi N, Rossi B, Messori A, Polonara G, Regnicolo L, Cardinali C | title = Joubert syndrome with associated corpus callosum agenesis | journal = European Journal of Paediatric Neurology | volume = 6 | issue = 1 | pages = 63–6 | date = 2002 | pmid = 11993957 | doi = 10.1053/ejpn.2001.0542 }}</ref><ref>{{cite journal | vauthors = Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O | display-authors = 6 | title = MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum | journal = European Journal of Medical Genetics | volume = 59 | issue = 8 | pages = 386–91 | date = August 2016 | pmid = 27377014 | doi = 10.1016/j.ejmg.2016.06.007 }}</ref>

Those with this syndrome often exhibit specific facial features such as a broad forehead, arched eyebrows, [[Ptosis (eyelid)|ptosis]] (droopy eyelids), [[hypertelorism]] (widely spaced eyes), low-set ears, and a triangle shaped mouth. Additionally, this disease can include a broad range of other abnormalities in other organ systems such as retinal dystrophy, kidney diseases, liver diseases, skeletal deformities, and endocrine (hormonal) problems.<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/joubert-syndrome|title=Joubert syndrome |website=MedlinePlus Genetics|access-date=|publisher = National Institutes of Health}}</ref>