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?
Advanced in Coach Syndrome
Pediatric Neurology | Pediatrics
Advanced in Coach Syndrome
Pediatric Neurology | Pediatrics
2401 Gillham Rd, 
Kansas City, MO 
Languages Spoken:
English

Brian Aalbers is a Pediatric Neurologist and a Pediatrics provider in Kansas City, Missouri. Dr. Aalbers is rated as an Advanced provider by MediFind in the treatment of Coach Syndrome. His top areas of expertise are Cortical Dysplasia, Focal or Multifocal Malformations in Neuronal Migration, Periventricular Heterotopia, and Seizures.

Katherine C. Van Poppel
Experienced in Coach Syndrome
Neurology | Pediatric Neurology
Experienced in Coach Syndrome
Neurology | Pediatric Neurology

Atrium Health Levine Children's Neurology Concord

100 Medical Park Drive, Suite 310, 
Concord, NC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Katherine Van Poppel is a Neurologist and a Pediatric Neurologist in Concord, North Carolina. Dr. Van Poppel is rated as an Experienced provider by MediFind in the treatment of Coach Syndrome. Her top areas of expertise are Lissencephaly 2, Bilateral Perisylvian Polymicrogyria, Polymicrogyria, and Cerebellar Agenesis. Dr. Van Poppel is currently accepting new patients.

 
 
 
 
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Adeel Yousaf
Experienced in Coach Syndrome
Experienced in Coach Syndrome

Atrium Health Levine Children's Neurology Concord

100 Medical Park Drive, Suite 310, 
Concord, NC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Adeel Yousaf is a Neurologist in Concord, North Carolina. Dr. Yousaf is rated as an Experienced provider by MediFind in the treatment of Coach Syndrome. His top areas of expertise are Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Seizures, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+). Dr. Yousaf is currently accepting new patients.

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