What is Trigonocephaly Syndrome?

Trigonocephaly Syndrome, which is also known by the name of C Syndrome, is a rare pathological condition caused due to an abnormality in the cell division causing an abnormality in the number of chromosomes. Under normal circumstances an individual has 46 chromosomes but in Trigonocephaly Syndrome the number of chromosomes is either 45 or 47. This is called as mosaicism.

This abnormality in cell division occurs very early in fetal development. This abnormality resulting in Trigonocephaly Syndrome is characterized by the child being born with various malformations and deformities of which the most prominent is a triangular shaped head which is caused due to premature closure of skull bones.

The child will also have a narrow pointed forehead, a short nose, and ocular abnormalities with strabismus being most pertinent, abnormalities of the ears, and loose floppy skin. Learning disability is also a common finding in children with Trigonocephaly Syndrome.

What are the Causes of Trigonocephaly Syndrome?

Gonadal mosaicism is the root cause of Trigonocephaly Syndrome. The exact gene which results in the abnormal cell division and to which chromosome is it associated with is still not known and research is still ongoing as to find out the gene responsible for the development of Trigonocephaly Syndrome.

What are the Symptoms of Trigonocephaly Syndrome?

The main characteristic feature of Trigonocephaly Syndrome is the triangular shaped head. Some of the other features of Trigonocephaly Syndrome are short nose, epicanthal folds, strabismus, and furrowed palate in the mouth, dislocated joints along with loose skin.

Hypotonia, facial palsy, webbing of the fingers or toes, defects of the heart, learning disability, and short limbs are some of the other features of Trigonocephaly Syndrome.

Failure of the testicles to descend to the scrotum is also one of the features of Trigonocephaly Syndrome. Seizures are also a common feature in cases of Trigonocephaly Syndrome.

How is Trigonocephaly Syndrome Treated?

For severe cases, surgery is the most recommended treatment to treat the deformities caused by Trigonocephaly Syndrome. A surgery of the head will be done to relieve some of the pressure that builds up on the head due to the deformity.

Surgery will also be required to correct the deformities of the face. Seizures may be controlled with anticonvulsants. Intervention from different specialties will be required for correcting the other deformities caused by Trigonocephaly Syndrome. Other than this, the treatment is purely symptomatic and supportive for individuals with Trigonocephaly Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: September 12, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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