C Syndrome
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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?
Elite in C Syndrome
Elite in C Syndrome
Referral may be required
Barcelona, CT, ES 

Daniel Grinberg practices practicing medicine in Barcelona, Spain. Mr. Grinberg is rated as an Elite expert by MediFind in the treatment of C Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses C Syndrome, Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Hereditary Multiple Osteochondromas, and Osteochondroma.

Elite in C Syndrome
Elite in C Syndrome
Referral may be required
Barcelona, CT, ES 

Roser Urreizti practices practicing medicine in Barcelona, Spain. Ms. Urreizti is rated as an Elite expert by MediFind in the treatment of C Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses C Syndrome, Hypotonia, Achalasia Microcephaly Syndrome, and Microcephaly.

 
 
 
 
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Elite in C Syndrome
Elite in C Syndrome
Referral may be required
Rotterdam, ZH, NL 

Anita Koelega-Hokken practices practicing medicine in Rotterdam, Netherlands. Ms. Koelega-Hokken is rated as an Elite expert by MediFind in the treatment of C Syndrome. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Small for Gestational Age, Prader-Willi Syndrome, C Syndrome, Hypopituitarism, and Hormone Replacement Therapy (HRT).

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What are the latest C Syndrome Clinical Trials?
Coordination of Rare Diseases at Sanford
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: May 29, 2025

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Who are the sources who wrote this article ?

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