C Syndrome
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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 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 10 other conditions, according to our data. His clinical expertise encompasses C Syndrome, Hereditary Multiple Osteochondromas, Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), and Osteochondroma.

Elite in C Syndrome
Roser Urreizti
Elite in C Syndrome
Roser Urreizti
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 5 other conditions, according to our data. Her clinical expertise encompasses C Syndrome, Hypotonia, Metopic Ridge, and Plagiocephaly.

 
 
 
 
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Elite in C Syndrome
Susana Balcells
Elite in C Syndrome
Susana Balcells
Barcelona, CT, ES 

Susana Balcells practices practicing medicine in Barcelona, Spain. Balcells is rated as an Elite expert by MediFind in the treatment of C Syndrome. They are also highly rated in 3 other conditions, according to our data. Their clinical expertise encompasses C Syndrome, Postmenopausal Osteoporosis, Osteoporosis, and Plagiocephaly.

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