Trigonocephaly

Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.

Trigonocephaly, also known as Opitz trigonocephaly syndrome or C syndrome is a type of cephalic disorder. This is the premature fusion of the metopic suture (part of the frontal suture which joins the two halves of the frontal bone of the skull) in which a V-shaped abnormality occurs at the front of the skull. It is characterized by a narrow pointed forehead, a flat broad nasal bridge with a short nose, vertical folds over the inner corners of the eyes, an abnormal palate that is deeply furrowed, abnormalities of the ear, crossed eyes (strabismus), joints that are bent or in a fixed position and loose skin. Genetic testing may be offered to determine the cause and recurrence risk. The mortality rate during the first year of life is high. The disorder is autosomal recessive inherited.“C” is the first letter of the surname of the affected patients first described, hence the name C syndrome.

Surgery can greatly reduce the visual effects of trigonocephaly. It can also help address comorbid elevated intracranial pressure.[1]

It is believed that the first surgery to correct the disorder was successfully completed in early 1962 in San Diego, California, on a six-month-old girl.[2]

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