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| {{short description|Autosomal recessive genetic condition}}'''COACH syndrome''', also known as '''Joubert syndrome with hepatic defect''',<ref name="orphanet" /> is a rare autosomal recessive [[genetic disease]]. The name is an acronym of the defining signs: [[cerebellar vermis|'''c'''erebellar vermis]] [[aplasia]], [[oligophrenia|'''o'''ligophrenia]], [[ataxia|congenital '''a'''taxia]], [[coloboma|'''c'''oloboma]] and [[hepatic fibrosis|'''h'''epatic fibrosis]]. The condition is associated with moderate [[intellectual disability]].<ref name="AA">{{cite web |last1=Bissonnette |first1=Bruno |last2=Luginbuehl |first2=Igor |last3=Marciniak |first3=Bruno |last4=Dalens |first4=Bernard J. | name-list-format = vanc |title=COACH Syndrome |url=https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517408 |website=Syndromes: Rapid Recognition and Perioperative Implications |publisher=The McGraw-Hill Companies |access-date=16 June 2018 |date=2006}}</ref> It falls under the category of a [[Joubert syndrome|Joubart Syndrome]]-related disorder (JSRD).<ref name=":0">{{cite journal | vauthors = Weiland MD, Nowicki MJ, Jones JK, Giles HW | title = COACH syndrome: an unusual cause of neonatal cholestasis | journal = The Journal of Pediatrics | volume = 158 | issue = 5 | pages = 858–858.e1 | date = May 2011 | pmid = 21237470 | doi = 10.1016/j.jpeds.2010.11.056 }}</ref> | | {{Short description|A rare genetic disorder}} |
| | {{Use dmy dates|date=October 2023}} |
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| The syndrome was first described in 1974 by Alasdair Hunter and his peers at the [[Montreal Children's Hospital]].<ref name=":2">{{cite journal | vauthors = Hunter AG, Rothman SJ, Hwang WS, Deckelbaum RJ | title = Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings | journal = Clinical Genetics | volume = 6 | issue = 2 | pages = 82–9 | date = 1974 | pmid = 4430157 | doi = 10.1111/j.1399-0004.1974.tb00636.x }}</ref> It was not until 1989 that it was labelled COACH syndrome, by Verloes and Lambotte, at the Sart Tilman University Hospital, Belgium.<ref name=":1">{{cite journal | vauthors = Verloes A, Lambotte C | title = Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis | journal = American Journal of Medical Genetics | volume = 32 | issue = 2 | pages = 227–32 | date = February 1989 | pmid = 2929661 | doi = 10.1002/ajmg.1320320217 }}</ref>
| | '''COACH syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[cerebellar vermis hypoplasia]], [[oligophrenia]], [[ataxia]], [[coloboma]], and [[hepatic fibrosis]]. It is considered a subtype of [[Joubert syndrome]] and is inherited in an [[autosomal recessive]] manner. |
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| == Signs and symptoms == | | ==Presentation== |
| [[File:Coloboma of the iris.JPG|thumb|An example of coloboma of the eye]]
| | Individuals with COACH syndrome typically present with a range of symptoms that affect multiple systems of the body. The hallmark features include: |
| Signs of COACH syndrome tend to present from birth to early childhood. Facial abnormalities are a common symptom, with some characteristics being broadness of the forehead, [[Ptosis (eyelid)|ptosis]] of either one or both eyes and misalignment of the eyes.<ref name=":3">{{cite journal | vauthors = Parisi MA | title = Clinical and molecular features of Joubert syndrome and related disorders | journal = American Journal of Medical Genetics. Part C, Seminars in Medical Genetics | volume = 151C | issue = 4 | pages = 326–40 | date = November 2009 | pmid = 19876931 | pmc = 2797758 | doi = 10.1002/ajmg.c.30229 }}</ref> Other cases also report a "carp" shaped mouth, flattened face and nose and [[hypertelorism]].<ref name=":1" />
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| Patients are often within the lower percentiles for height and weight growth.<ref name=":0" /> [[Hypotonia]] is a possible sign of COACH syndrome.<ref name=":0" /> Infants suffering from COACH syndrome may experience very categorical hyperventilation and complications with respiration, such as irregular breathing. It has been reported that as patients surpass infancy, these respiratory issues may disappear.<ref name=":6">{{cite journal | vauthors = Acharyya BC, Goenka MK, Chatterjee S, Goenka U | title = Dealing with congenital hepatic fibrosis? Remember COACH syndrome | journal = Clinical Journal of Gastroenterology | volume = 7 | issue = 1 | pages = 48–51 | date = February 2014 | pmid = 26183508 | doi = 10.1007/s12328-013-0418-6 }}</ref>
| | * '''Cerebellar vermis hypoplasia''': This refers to underdevelopment of the cerebellar vermis, a part of the brain that coordinates movement. This can lead to [[ataxia]], which is a lack of voluntary coordination of muscle movements. |
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| Behavioral and intellectual delays are symptoms caused by the hypoplasia of the cerebellar vermis and oligophrenia.<ref>{{Cite web|url=https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-hypoplasia-Information-Page#disorders-r3|title=Cerebellar Hypoplasia Information Page {{!}} National Institute of Neurological Disorders and Stroke|website=www.ninds.nih.gov|access-date=2019-05-15}}</ref><ref>{{Cite journal|date=1969-10-01|title=Chapter 20: Oligophrenia (Congenital Dementia)|journal=Soviet Law and Government|volume=8|issue=2–4|pages=377–392|doi=10.2753/RUP1061-194008020304377|issn=0038-5530}}</ref> This implies delayed onset of speech and walking, along with learning and social issues.<ref name=":2" /> Poor motor skills and balance, speech impairment, mild gait or hand ataxia and irregular eye movement are symptoms of the disease attributed to congential [[ataxia]].<ref>{{cite journal | vauthors = Fogel BL | title = Childhood cerebellar ataxia | journal = Journal of Child Neurology | volume = 27 | issue = 9 | pages = 1138–45 | date = September 2012 | pmid = 22764177 | pmc = 3490706 | doi = 10.1177/0883073812448231 }}</ref>
| | * '''Oligophrenia''': This term is used to describe intellectual disability or developmental delay. Individuals with COACH syndrome may have varying degrees of cognitive impairment. |
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| [[Coloboma]] of the eye is visible in the retina as "hole" in its structure, and causes low vision, possible sensitivity to light and variance in size of the eyeball.<ref>{{cite journal | vauthors = Barzilai M, Ish-Shalom N, Lerner A, Iancu TC | title = Imaging findings in COACH syndrome | journal = AJR. American Journal of Roentgenology | volume = 170 | issue = 4 | pages = 1081–2 | date = April 1998 | pmid = 9530063 | doi = 10.2214/ajr.170.4.9530063 | doi-access = free }}</ref><ref>{{Cite web|url=https://nei.nih.gov/health/coloboma/coloboma|title=Facts About Coloboma {{!}} National Eye Institute|website=nei.nih.gov|access-date=2019-05-15}}</ref> The build-up of tissue in the liver, known as [[Cirrhosis|hepatic fibrosis]], may cause symptoms such as [[jaundice]], [[ascites]], abnormal bleeding and enlarged spleen.<ref>{{Cite web|url=https://nei.nih.gov/health/coloboma/coloboma|title=Facts About Coloboma {{!}} National Eye Institute|website=nei.nih.gov|access-date=2019-05-15}}</ref> Kidney complications in the form of [[Polycystic kidney disease|polycystic kidney]] or [[nephronophthisis]] is estimated to affect 77% of patients suffering from COACH syndrome, and is therefore a highly significant symptom of the disease.<ref name=":3" />
| | * '''Ataxia''': Due to cerebellar involvement, affected individuals often experience difficulties with balance and coordination. |
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| == Genetics ==
| | * '''Coloboma''': This is a defect in the eye that can affect the iris, retina, choroid, or optic disc. It can lead to vision problems. |
| [[File:Eukaryotic cilium diagram en.svg|left|thumb|A diagram of the structure of a primary cilium]]
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| Due to generational familial linkage and the frequency of siblings sharing inheritance of COACH syndrome, it is classified as an autosomal recessive disorder. COACH syndrome is a [[ciliopathy]], a group of diseases categorized by irregular behavior of the primary cilia, which are involved in cell division, transportation, communication and tissue differentiation. This leads to irregular tissue growth in organs and various other diseases.<ref name=":3" /> 83% of COACH syndrome carriers presented with either one or two mutations on the [[TMEM67|MKS3]] gene, and findings suggest this is where most of the symptoms can be accredited. [[CC2D2A]] and [[RPGRIP1|RPGRIP1L]] genes may also have some minor contributions, with around 8.7% reporting a mutation on the [[CC2D2A]] gene and 4.3% on the [[RPGRIP1L]] gene. These three genetic mutations reportedly cover 96% of families suffering from COACH syndrome.<ref name=":4">{{cite journal | vauthors = Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA | display-authors = 6 | title = Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) | journal = Journal of Medical Genetics | volume = 47 | issue = 1 | pages = 8–21 | date = January 2010 | pmid = 19574260 | pmc = 3501959 | doi = 10.1136/jmg.2009.067249 }}</ref>
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| | * '''Hepatic fibrosis''': This is a condition where excessive connective tissue builds up in the liver, potentially leading to liver dysfunction. |
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| | ==Genetics== |
| | COACH syndrome is inherited in an [[autosomal recessive]] pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The specific genetic mutations associated with COACH syndrome are found in the [[TMEM67]] gene, which is involved in the function of [[cilia]], small hair-like structures on the surface of cells that play a crucial role in cell signaling and development. |
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| | ==Diagnosis== |
| | Diagnosis of COACH syndrome is based on clinical evaluation, imaging studies, and genetic testing. [[Magnetic resonance imaging]] (MRI) of the brain can reveal the characteristic cerebellar vermis hypoplasia. Genetic testing can confirm mutations in the [[TMEM67]] gene. |
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| | ==Management== |
| | There is no cure for COACH syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including neurologists, ophthalmologists, hepatologists, and developmental specialists. Interventions may include: |
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| | * Physical therapy to improve coordination and balance |
| | * Special education services to address developmental delays |
| | * Regular monitoring of liver function |
| | * Vision correction for coloboma-related issues |
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| == Diagnosis == | | ==Prognosis== |
| The diagnosis of COACH syndrome is based off the presence of all five categories; [[cerebellar vermis]] hypoplasia, oligophrenia, congenital [[ataxia]], [[coloboma]], and [[Cirrhosis|hepatic fibrosis]]. | | The prognosis for individuals with COACH syndrome varies depending on the severity of symptoms and the presence of complications such as liver disease. Early intervention and supportive care can improve quality of life. |
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| Detection of the [[Cerebellar vermis|hypoplasia of the cerebellar vermis]] is achieved through a cranial magnetic resonance imaging ([[Magnetic resonance imaging|MRI]]) scan. The presence of the ‘molar tooth sign’ (MTS) on the MRI scan, a mid- brain hind- brain malformation, confirms this condition and is a key indicator of COACH syndrome. The MTS’s distinguished shape is attributed to the lengthened [[Superior cerebellar peduncle|superior cerebellar peduncles]] and deepened [[interpeduncular fossa]].<ref name=":3" /> To diagnose [[ataxia]], both neurological assessment and physical examination are required. This can include [[Magnetic resonance imaging|MRI]] scans, study of behavior and motor skills in infancy and analysis of family history and genetics. In the case of congenital [[ataxia]], patients are born with the condition and thus diagnosis is more difficult, therefore diagnosis of ataxia alone is not sufficient to indicate COACH syndrome, and must be used in conjunction with other symptoms.<ref>{{cite journal | vauthors = Fogel BL | title = Childhood cerebellar ataxia | journal = Journal of Child Neurology | volume = 27 | issue = 9 | pages = 1138–45 | date = September 2012 | pmid = 22764177 | pmc = 3490706 | doi = 10.1177/0883073812448231 }}</ref> Oligophrenia, more commonly known as [[intellectual disability]], is diagnosed using personalized testing to measure intelligence and physical examination for anomalies and facial dysmorphia.<ref name=":7">{{cite journal | vauthors = Johnson CP, Walker WO, Palomo-González SA, Curry CJ | title = Mental retardation: diagnosis, management, and family support | journal = Current Problems in Pediatric and Adolescent Health Care | volume = 36 | issue = 4 | pages = 126–65 | date = April 2006 | pmid = 16564466 | doi = 10.1016/j.cppeds.2005.11.005 }}</ref> [[Cirrhosis|Hepatic fibrosis]] has a range of diagnostic techniques, including invasive and non- invasive. Liver biopsy examination is an invasive technique, which uses liver tissue extracted from the patient to identify the degree and severity of the fibrosis, and may also provide insight on tumor growth. [[Medical ultrasound|Ultrasonography]]- based tests use radiation waves to measure the stiffness of the tissue and are non- invasive. Serum tests are also non- invasive, and diagnose liver complications on the basis of the amount and presence of certain proteins and chemicals in the body.<ref name=":5">{{cite journal | vauthors = Cheng JY, Wong GL | title = Advances in the diagnosis and treatment of liver fibrosis. | journal = Hepatoma Research | date = 2017 | volume = 3 | issue = 8 | pages = 156–69 | doi =10.20517/2394-5079.2017.27 | doi-access = free }}</ref> Kidney cysts can be discovered using ultrasound techniques, and monitoring of the patient's urine concentrating ability for any abnormalities can indicate other renal complications such as [[nephronophthisis]].<ref name=":3" /><ref name=":6" />
| | ==Related pages== |
| | * [[Joubert syndrome]] |
| | * [[Cerebellar hypoplasia]] |
| | * [[Autosomal recessive disorder]] |
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| == Management ==
| | [[Category:Genetic disorders]] |
| [[File:Peritoneal dialysis.gif|left|thumb|A diagram of dialysis treatment for renal complications]] | | [[Category:Neurological disorders]] |
| There is no cure for COACH, syndrome, therefore treatment targets the various complications it implies and management of the disease and its symptoms.
| | [[Category:Hepatic disorders]] |
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| Management includes monitoring patients’ neurological activity, development patterns and renal and hepatic function annually. Programs for [[special education]] and [[occupational therapy]] for speech and motor impairment can improve symptoms of [[intellectual disability]] and quality of life for patients. Families and patients are offered ongoing psychological support and specialized care is provided to aid societal integration. In some cases, antiepileptic drugs or neuroleptics are prescribed to reduce anger and behavioral difficulties and improve mood.<ref name=":7" /> Some children with hypotonia and other motor skill complications may need a nasogastric feeding tube in order to ensure adequate nutrients are received and breathing is undisrupted.<ref name=":3" />
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| Ophthalmological surgery may be used to treat [[coloboma]] and [[Ptosis (eyelid)|ptosis]] of the eye to improve vision and appearance. A common technique to treat coloboma is [[intraocular lens]] (IOL) implantation, whereby a lens is surgically inserted and adhered to the iris to improve vision and appearance. In some severe cases, in conjunction with the IOL implantation, an artificial iris may be inserted into the lens capsule to treat this condition.<ref>{{cite journal | vauthors = Li J, Li Y, Hu Z, Kong L | title = Intraocular lens implantation for patients with coloboma of the iris | journal = Experimental and Therapeutic Medicine | volume = 7 | issue = 6 | pages = 1595–1598 | date = June 2014 | pmid = 24926350 | pmc = 4043619 | doi = 10.3892/etm.2014.1615 }}</ref> To treat [[Ptosis (eyelid)|ptosis]], upper eyelid [[blepharoplasty]] is used for both cosmetic and functional reasons. Excess muscle and fat is removed, and the lid is raised in this procedure, and it is considered a minor procedure.<ref>{{cite book | vauthors = Kwitko GM, Badri T, Patel BC | chapter = Blepharoplasty Ptosis Surgery | date = 2019 | pmid = 29493921 | chapter-url = http://www.ncbi.nlm.nih.gov/books/NBK482296/ | publisher = StatPearls Publishing | title = StatPearls }}</ref>
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| If kidney function is abnormal, [[dialysis]] is a viable method of management, though is not a cure. Dialysis involves the refiltering of the blood through an external dialyzer, and is done usually three times a week to improve quality of life.<ref>{{Cite web|url=https://www.niddk.nih.gov/health-information/kidney-disease/kidney-failure/hemodialysis|title=Hemodialysis {{!}} NIDDK|website=National Institute of Diabetes and Digestive and Kidney Diseases|language=en-US|access-date=2019-06-05}}</ref> In most advanced cases, a [[Kidney transplantation|kidney transplant]] will be required in order to ensure patient survival.<ref name=":3" /> [[Cirrhosis|Hepatic fibrosis]] has a variety of treatment options, including anti-fibrotic methods, which aim to prevent the build-up of tissue in the liver. There are multiple methods, such as the targeting or clearance of collagen- generating cells, deactivation of receptors to certain cytokines and inhibition of connective tissue growth factor (CTGF). In cases of advanced fibrosis causing liver failure, [[Liver transplantation|liver transplant]] surgery is necessary to restore function.<ref name=":4" /><ref name=":5" />
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| == Prognosis ==
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| COACH syndrome is categorized as a Jobert syndrome related disorder (JSRD). [[Joubert syndrome]] affects approximately 1 in 80,000 to 1 in 100,000 live births, meaning it is a rare disease, while COACH syndrome is even more rare, with only 43 cases being reported from its discovery until 2010.<ref name=":0" /> It is estimated to occur in less than one in one million people.<ref name="orphanet">{{cite web |title=Orphanet: Joubert syndrome with hepatic defect |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1454 |website=www.orpha.net |access-date=16 June 2018 |language=en}}</ref> Due to this rarity, the prognosis of the disease is dealt with case- by- case. Survival depends on the severity of the symptoms, with most patients surviving infancy.<ref name=":3" /> The likely causes of death with the progression of time are a [[Kidney|renal]] and [[Liver|hepatic]] failure in later stages of life.<ref>{{cite journal | vauthors = Brancati F, Dallapiccola B, Valente EM | title = Joubert Syndrome and related disorders | journal = Orphanet Journal of Rare Diseases | volume = 5 | issue = 1 | pages = 20 | date = July 2010 | pmid = 20615230 | pmc = 2913941 | doi = 10.1186/1750-1172-5-20 }}</ref>
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| == History ==
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| The first official report of COACH syndrome was published in 1974 at the [[Montreal Children's Hospital]], identifying two siblings, a brother and sister, presenting with all 5 components of the disorder. The report summarizes the family history and provides detailed case reports on the two siblings, analyzing all health abnormalities to reach a conclusion about the condition. The siblings both presented with the symptoms of congenital [[Cirrhosis|hepatic fibrosis]], choroidal [[Coloboma|colobomata]], [[Dysmorphic feature|dysmorphic features]], [[Polycystic kidney disease|polycystic kidneys]], [[encephalopathy]] causing mental retardation and growth problems. The report concludes that the symptoms presented by the siblings are not completely consistent with any other existing disorders, and thus prompted further research into the official classification of COACH syndrome in 1989.<ref name=":2" />
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| {| class="wikitable"
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| |+Summary of the Symptoms Present in 2 Siblings Suffering from COACH Syndrome in 1974
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| !Symptom
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| !Sibling 1
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| !Sibling 2
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| |-
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| |Mastoiditis and sinusitis
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| |Yes
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| |Yes
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| |-
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| |Dermatolglypics
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| |No
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| |Yes
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| |-
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| |Extra finger
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| |No
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| |Yes
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| |-
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| |Low hairline
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| |No
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| |Yes
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| |-
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| |Ptosis of eyes
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| |No
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| |Yes
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| |-
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| |High palate
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| |Yes
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| |Yes
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| |-
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| |'Carp'- shaped mouth
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| |Yes
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| |Yes
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| |-
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| |Short middle 3 toes
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| |Yes
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| |No
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| |-
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| |Flat nose
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| |No
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| |Yes
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| |-
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| |Abnormal or underdeveloped ears
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| |Yes
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| |Yes
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| |-
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| |Anteverted nostrils
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| |Yes
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| |Yes
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| |-
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| |Perinatal complications
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| |Yes
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| |Yes
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| |-
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| |Pronounced forehead
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| |Yes
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| |Yes
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| |-
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| |Hypertelorism of eyes
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| |Yes
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| |Yes
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| |-
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| |Strabismus
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| |Yes
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| |Yes
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| |-
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| |Nystagmus
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| |Yes
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| |Yes
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| |-
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| |Decreased muscle
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| |Yes
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| |Yes
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| |-
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| |Slurred speech
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| |Yes
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| |No
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| |-
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| |Irregular movements
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| |Yes
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| |Yes
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| |-
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| |Ataxia
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| |Yes
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| |Yes
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| |-
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| |Intellectual deficit
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| |Yes
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| |Yes
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| |-
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| |Coloboma of the eye
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| |Yes
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| |Yes
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| |-
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| |Renal anomalities
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| |Yes
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| |Yes
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| |-
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| |Hepatic fibrosis
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| |Yes
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| |Yes
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| |}
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| The official report classifying COACH syndrome in 1989 by Verloes and Lambotte assesses the disorder in two siblings and a third unrelated child, finding very similar symptoms to the initial report in 1974. The report concludes by suggesting that more cases of the disorder need to be reported in order to refine its definition, and assigns the name COACH syndrome as an acronym for the major symptoms.<ref name=":1" />
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| == References ==
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| {{Reflist}}
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| {{Navbox
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| | name = Lsquil/OLES2129/Draft
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| | title = [[COACH syndrome]]
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| | listclass = hlist
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| | group1 = Related articles
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| | list1 =
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| *[[Joubert syndrome]]
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| *[[Ciliopathy]]
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| *[[Retinitis pigmentosa]]
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| *[[Congenital hepatic fibrosis]]
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| [[Category:Rare genetic syndromes]]
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| {{dictionary-stub1}}
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A rare genetic disorder
COACH syndrome is a rare genetic disorder characterized by a combination of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. It is considered a subtype of Joubert syndrome and is inherited in an autosomal recessive manner.
Presentation
Individuals with COACH syndrome typically present with a range of symptoms that affect multiple systems of the body. The hallmark features include:
- Cerebellar vermis hypoplasia: This refers to underdevelopment of the cerebellar vermis, a part of the brain that coordinates movement. This can lead to ataxia, which is a lack of voluntary coordination of muscle movements.
- Oligophrenia: This term is used to describe intellectual disability or developmental delay. Individuals with COACH syndrome may have varying degrees of cognitive impairment.
- Ataxia: Due to cerebellar involvement, affected individuals often experience difficulties with balance and coordination.
- Coloboma: This is a defect in the eye that can affect the iris, retina, choroid, or optic disc. It can lead to vision problems.
- Hepatic fibrosis: This is a condition where excessive connective tissue builds up in the liver, potentially leading to liver dysfunction.
Genetics
COACH syndrome is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The specific genetic mutations associated with COACH syndrome are found in the TMEM67 gene, which is involved in the function of cilia, small hair-like structures on the surface of cells that play a crucial role in cell signaling and development.
Diagnosis
Diagnosis of COACH syndrome is based on clinical evaluation, imaging studies, and genetic testing. Magnetic resonance imaging (MRI) of the brain can reveal the characteristic cerebellar vermis hypoplasia. Genetic testing can confirm mutations in the TMEM67 gene.
Management
There is no cure for COACH syndrome, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including neurologists, ophthalmologists, hepatologists, and developmental specialists. Interventions may include:
- Physical therapy to improve coordination and balance
- Special education services to address developmental delays
- Regular monitoring of liver function
- Vision correction for coloboma-related issues
Prognosis
The prognosis for individuals with COACH syndrome varies depending on the severity of symptoms and the presence of complications such as liver disease. Early intervention and supportive care can improve quality of life.
Related pages
