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?
Experienced in C Syndrome
Endocrinology
Experienced in C Syndrome
Endocrinology

Department Of Medicine Medical Serv Grp At Suny Hlth Sci Ctr Syr In

3229 E Genesee St, 
Syracuse, NY 
 (2.7 mi)
Experience:
12+ years
Languages Spoken:
English
Offers Telehealth

Jason Sloane is an Endocrinologist in Syracuse, New York. Dr. Sloane has been practicing medicine for over 12 years and is rated as an Experienced provider by MediFind in the treatment of C Syndrome. His top areas of expertise are Obesity in Children, Hypothyroidism, Postmenopausal Osteoporosis, and Osteoporosis.

Experienced in C Syndrome
Pediatrics | Hematology | Oncology
Experienced in C Syndrome
Pediatrics | Hematology | Oncology
4811 Buckley Rd, 
Liverpool, NY 
 (6.8 mi)
Languages Spoken:
English

Robert Dracker is a Pediatrics specialist and a Hematologist in Liverpool, New York. Dr. Dracker and is rated as an Experienced provider by MediFind in the treatment of C Syndrome. His top areas of expertise are Osteoporosis, Hemochromatosis, Marshall Syndrome, and Lujan Syndrome.

 
 
 
 
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Experienced in C Syndrome
Interventional Cardiology | Cardiology
Experienced in C Syndrome
Interventional Cardiology | Cardiology

Central New York Cardiology, PC

321 Genesee St, 
Oneida, NY 
 (25.0 mi)
Languages Spoken:
English

Prabhat Varma is an Interventional Cardiologist and a Cardiologist in Oneida, New York. Dr. Varma and is rated as an Experienced provider by MediFind in the treatment of C Syndrome. His top areas of expertise are Cardiomyopathy, Apoplexy, Hypertension, and Familial Hypertension.

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