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. This condition is genetically heterogeneous, meaning that 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?

  • Opitz trigonocephaly syndrome
  • Trigonocephaly C syndrome
  • Trigonocephaly syndrome
  • Condition: Small-for-Gestational-Age, Growth Hormone-Deficient and Prader-Willi Children
  • Journal: Journal of clinical research in pediatric endocrinology
  • Treatment Used: Growth Hormone Therapy
  • Number of Patients: 92
  • Published —
This study evaluated the therapeutic response markers of IGF1/IGFBP3 molar ratio as a tool for assessing the safety of recombinant human growth hormone (rGH) treatment in small-for-gestational-age, growth hormone-deficient, and Prader-Willi Children.
  • Condition: Recurrent Acute Myeloid Leukemia (AML)
  • Journal: American journal of hematology
  • Treatment Used: Three Novel Regimens
  • Number of Patients: 90
  • Published —
This study sought to improve the outcome of relapsed/refractory acute myeloid leukemia (AML), in a phase II trial of three novel regimens.