C Syndrome Overview

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Learn About C Syndrome

What is the definition of C Syndrome?
C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. There is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene.
What are the alternative names for C Syndrome?
  • C syndrome
  • Opitz trigonocephaly syndrome
  • Trigonocephaly C syndrome
  • Trigonocephaly syndrome
Who are the top C Syndrome Local Doctors?
Dr. Robert Hopkin
Medical Genetics | Pediatrics
Dr. Robert Hopkin
Medical Genetics | Pediatrics

Children's Hospital Medical Center

3333 Burnet Ave, 
Cincinnati, OH 
 (9.0 mi)
513-636-4200
Languages Spoken:
English
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Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Hopkin and is rated as an Advanced provider by MediFind in the treatment of C Syndrome. His top areas of expertise are Fabry Disease, Micrognathia, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, and Multiple Sulfatase Deficiency.

Dr. David J. Draper
Hematology Oncology | Hematology | Oncology
Dr. David J. Draper
Hematology Oncology | Hematology | Oncology

Trihealth H LLC

375 Dixmyth Ave, 
Cincinnati, OH 
 (8.6 mi)
Languages Spoken:
English
See accepted insurances
Accepting New Patients

David Draper is a Hematologist Oncology specialist and a Hematologist in Cincinnati, Ohio. Dr. Draper and is rated as an Experienced provider by MediFind in the treatment of C Syndrome. His top areas of expertise are Familial Colorectal Cancer, Colorectal Cancer, Childhood Iron Deficiency Anemia, and Lynch Syndrome. Dr. Draper is currently accepting new patients.

 
 
 
 
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Dr. Emily J. Johnson
Family Medicine
Dr. Emily J. Johnson
Family Medicine

University Of Cincinnati Physicians Company LLC

3120 Burnet Ave, Suite 406, 
Cincinnati, OH 
 (8.7 mi)
513-584-8600
Experience:
9+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Emily Johnson is a Family Medicine provider in Cincinnati, Ohio. Dr. Johnson has been practicing medicine for over 9 years and is rated as an Experienced provider by MediFind in the treatment of C Syndrome. Her top areas of expertise are Fetal Alcohol Syndrome (FAS), Down Syndrome, Cerebral Palsy, and Megalencephaly-Capillary Malformation Syndrome. Dr. Johnson is currently accepting new patients.

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