Coach Syndrome Overview

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Learn About Coach Syndrome

What is the definition of Coach Syndrome?
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). This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by genetic changes in the TMEM67 gene. COACH syndrome is considered a rare form of another condition, Joubert syndrome.
What are the alternative names for Coach Syndrome?
  • COACH syndrome
  • Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
  • Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
  • Gentile syndrome
  • JS-H
  • Joubert syndrome with congenital hepatic fibrosis
  • Joubert syndrome with hepatic defect
Who are the top Coach Syndrome Local Doctors?
Dr. William E. Schwab
Family Medicine
Dr. William E. Schwab
Family Medicine

University Of Wisconsin Medical Foundation Inc

3209 Dryden Dr, 
Madison, WI 
 (160.7 mi)
608-287-2770
Languages Spoken:
English
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Accepting New Patients

William Schwab is a Family Medicine provider in Madison, Wisconsin. Dr. Schwab and is rated as a Distinguished provider by MediFind in the treatment of Coach Syndrome. His top areas of expertise are Polymicrogyria, VLDLR-Associated Cerebellar Hypoplasia, Coach Syndrome, and Joubert Syndrome. Dr. Schwab is currently accepting new patients.

Dr. Heidi B. Allred
Family Medicine
Dr. Heidi B. Allred
Family Medicine

Gundersen Lutheran Medical Center Inc

1836 S Ave, 
La Crosse, WI 
 (79.2 mi)
608-783-7300
Languages Spoken:
English
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Accepting New Patients

Heidi Allred is a Family Medicine provider in La Crosse, Wisconsin. Dr. Allred and is rated as an Experienced provider by MediFind in the treatment of Coach Syndrome. Her top areas of expertise are Orofaciodigital Syndrome 6, Hydranencephaly, Joubert Syndrome, and Coach Syndrome. Dr. Allred is currently accepting new patients.

 
 
 
 
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Dr. Natasha W. Frost
Neurology
Dr. Natasha W. Frost
Neurology

University Of Wisconsin Medical Foundation Inc

600 Highland Ave, 
Madison, WI 
 (161.3 mi)
608-263-6400
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Natasha Frost is a Neurologist in Madison, Wisconsin. Dr. Frost and is rated as an Experienced provider by MediFind in the treatment of Coach Syndrome. Her top areas of expertise are Multiple Sclerosis (MS), Relapsing Multiple Sclerosis (RMS), Neuromyelitis Optica, and Transverse Myelitis. Dr. Frost is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center