COACH syndrome

Title

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:

Congenital and Genetic Diseases; Digestive Diseases; Nervous System Diseases

Summary Summary

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

Symptoms Symptoms

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
Abnormal abdomen morphology	Abnormality of abdomen structure	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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Organizations Organizations

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

euro-ATAXIA (European Federation of Hereditary Ataxias)
Website: https://www.euroataxia.org/
Joubert Syndrome & Related Disorders Foundation (JSRDF)
9 Dorenfeld CT
Petaluma, CA 94952
Telephone: +1-614-864-1362
E-mail: info@jsrdf.org
Website: https://jsrdf.org/

Do you know of an organization? We want to hear from you.

Living With Living With

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

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

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 & Events News & Events

News

Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

Other Conferences

Joubert Syndrome & Related Disorders Foundation
10th Biennial Conference
July 13-16, 2011
Orlando Florida

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.