Coach Syndrome
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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?
Experienced in Coach Syndrome
Dr. Kate C. Van Poppel
Neurology | Pediatric Neurology
Experienced in Coach Syndrome
Dr. Kate C. Van Poppel
Neurology | Pediatric Neurology

Atrium Health Levine Children's Neurology Concord

100 Medical Park Drive, Suite 310, 
Concord, NC 
704-381-1450
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Kate Van Poppel is a Neurologist and a Pediatric Neurologist practicing medicine in Concord, North Carolina. Dr. Van Poppel is rated as an Experienced provider by MediFind in the treatment of Coach Syndrome. Her clinical expertise encompasses Lissencephaly, VLDLR-Associated Cerebellar Hypoplasia, Lissencephaly 2, and Pontocerebellar Hypoplasia. Dr. Van Poppel is board certified in American Board Of Psychiatry And Neurology, Neurology With Special Qualification In Child Neurology, American Board Of Psychiatry And Neurology, Clinical Neurophysiology, American Board Of Pediatrics, and American Board Of Psychiatry And Neurology, Epilepsy. Dr. Van Poppel is currently accepting new patients.

Experienced in Coach Syndrome
Dr. Adeel Yousaf
Neurology
Experienced in Coach Syndrome
Dr. Adeel Yousaf
Neurology

Atrium Health Levine Children's Neurology Concord

100 Medical Park Drive, Suite 310, 
Concord, NC 
704-381-1450
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Adeel Yousaf is a Neurologist practicing medicine in Concord, North Carolina. Dr. Yousaf is rated as an Experienced provider by MediFind in the treatment of Coach Syndrome. His clinical expertise encompasses Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Seizures, and Genetic Epilepsy with Febrile Seizures Plus (GEFS+). Dr. Yousaf is board certified in American Board Of Pediatrics and American Board Of Psychiatry And Neurology. Dr. Yousaf is currently accepting new patients.

 
 
 
 
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Advanced in Coach Syndrome
Dr. Brian M. Aalbers
Pediatric Neurology | Pediatrics
Advanced in Coach Syndrome
Dr. Brian M. Aalbers
Pediatric Neurology | Pediatrics
2401 Gillham Rd, 
Kansas City, MO 
816-234-3000
Languages Spoken:
English
See accepted insurances

Brian Aalbers is a Pediatric Neurologist and a Pediatrics provider practicing medicine in Kansas City, Missouri. Dr. Aalbers is rated as an Advanced provider by MediFind in the treatment of Coach Syndrome. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Periventricular Heterotopia, Cortical Dysplasia, Focal or Multifocal Malformations in Neuronal Migration, and Seizures.

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