National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

COACH syndrome


Other Names:
Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis; Joubert syndrome with congenital hepatic fibrosis; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis; Joubert syndrome with congenital hepatic fibrosis; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; Joubert syndrome with hepatic defect; JS-H See More
Categories:
COACH syndrome is a condition that mainly affects the brain and liver.  Most individuals with COACH syndrome have intellectual disability, liver problems (fibrosis), and difficulty with movement (ataxia).  Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).[1]  This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene.  COACH syndrome is considered a rare form of another condition, Joubert syndrome.[2]  
Last updated: 8/1/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Apnea 0002104
Ataxia 0001251
Cerebellar vermis hypoplasia 0001320
Congenital hepatic fibrosis
Excessive buildup of connective tissue and scarring of liver at birth
0002612
Elevated hepatic transaminase
High liver enzymes
0002910
Hepatomegaly
Enlarged liver
0002240
Intellectual disability, moderate
IQ between 34 and 49
0002342
Intrahepatic biliary atresia 0005248
Muscular hypotonia
Low or weak muscle tone
0001252
Oculomotor apraxia 0000657
30%-79% of people have these symptoms
Biparietal narrowing 0004422
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Feeding difficulties in infancy 0008872
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hyperreflexia
Increased reflexes
0001347
Iris coloboma
Cat eye
0000612
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Nephropathy 0000112
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic nerve coloboma 0000588
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
5%-29% of people have these symptoms
Abnormality of neuronal migration 0002269
Abnormality of the hypothalamus-pituitary axis 0000864
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplasia/Hypoplasia of the corpus callosum 0007370
Chronic hepatic failure
Chronic liver failure
0100626
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] 		0002553
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Inguinal hernia 0000023
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Multicystic kidney dysplasia 0000003
Neoplasm of the liver
Liver cancer
Liver tumor
[ more ] 		0002896
Occipital encephalocele
Brain tissue sticks out through back of skull
0002085
Oral cleft
Cleft of the mouth
0000202
Portal hypertension 0001409
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] 		0000426
Ptosis
Drooping upper eyelid
0000508
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Scoliosis 0002650
Seizure 0001250
Splenomegaly
Increased spleen size
0001744
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Tremor 0001337
Percent of people who have these symptoms is not available through HPO
Abnormality of abdomen morphology 0001438
Aplasia/Hypoplasia of the cerebellar vermis 0006817
Autosomal recessive inheritance 0000007
Coloboma
Notched pupil
0000589
Dilatation
Wider than typical opening or gap
0002617
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hepatic fibrosis 0001395
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypertension 0000822
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Molar tooth sign on MRI 0002419
Multiple small medullary renal cysts 0008659
Nephronophthisis 0000090
Round face
Circular face
Round facial appearance
Round facial shape
[ more ] 		0000311
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
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Last updated: 7/1/2020
While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis).[3]
Last updated: 8/1/2012

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to COACH syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The University of Washington's Hindbrain Malformation Research Program invites individuals with this condition to participate in their research program. Click on the link for more information on how to participate in their research study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss COACH syndrome. Click on the link to view a sample search on this topic.

News

Other Conferences

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Three siblings were admitted to the hospital because of cirrhosis, mental retardation, and retinal malformations.  Do these individuals have COACH syndrome? See answer


  1. COACH syndrome. Online Mendelian Inheritance in Man. June 2010; http://omim.org/entry/216360. Accessed 7/26/2012.
  2. Joubert syndrome with hepatic defect. Orphanet. July 2011; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1644&Disease_Disease_Search_diseaseGroup=COACH&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&title=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&search=Disease_Search_Simple. Accessed 7/26/2012.
  3. Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. American Journal of Medical Genetics Part C. 2009; 151C:326-340. http://www.ncbi.nlm.nih.gov/pubmed/19876931. Accessed 7/26/2012.