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
Daniel Grinberg
Elite in C Syndrome
Daniel Grinberg
Barcelona, CT, ES 

Daniel Grinberg practices in Barcelona, Spain. Mr. Grinberg is rated as an Elite expert by MediFind in the treatment of C Syndrome. His top areas of expertise are C Syndrome, Hereditary Multiple Osteochondromas, Osteochondroma, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome).

Elite in C Syndrome
Roser Urreizti
Elite in C Syndrome
Roser Urreizti
Barcelona, CT, ES 

Roser Urreizti practices in Barcelona, Spain. Ms. Urreizti is rated as an Elite expert by MediFind in the treatment of C Syndrome. Her top areas of expertise are C Syndrome, Hypotonia, Metopic Ridge, and Plagiocephaly.

 
 
 
 
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Elite in C Syndrome
Anita S. Koelega-Hokken
Elite in C Syndrome
Anita S. Koelega-Hokken
Rotterdam, ZH, NL 

Anita Koelega-Hokken practices in Rotterdam, Netherlands. Ms. Koelega-Hokken is rated as an Elite expert by MediFind in the treatment of C Syndrome. Her top areas of expertise are Small for Gestational Age, Prader-Willi Syndrome, C Syndrome, Hypopituitarism, and Hormone Replacement Therapy (HRT).

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