Opitz Trigonocephaly Syndrome
What is Opitz trigonocephaly syndrome?
Opitz trigonocephaly syndrome, also known as C syndrome, is a rare disorder that occurs because of gonadal mosaicism, which is when one has cells that differ from each other in the genetic makeup. In this case, some cells have a different number of chromosomes. This disorder is extremely rare, with only 70 cases being reported.
What are the symptoms of Opitz trigonocephaly syndrome?
The main symptom of this syndrome is a triangular shaped skull, as the bones close prematurely. Distinct bodily features like a broad nasal bridge, a short nose, a deeply furrowed palate, abnormalities in the outer ear, crossed eyes, dislocated or bent joints, loose skin, and vertical folds over the inner corners of the eyes are also symptoms.
Other symptoms of Opitz trigonocephaly syndrome are:
- Developmental and learning disabilities
- Loss of muscle tone
- Facial palsy
- Abnormalities in the sternum
- Webbed fingers and toes
- Short limbs
- Heart defects
- Abnormalities of the kidneys and lungs
- Failure of the testicles to move down into the scrotum
- Deformities of the lower jaw
What causes Opitz trigonocephaly syndrome?
Gonadal mosaicism is believed to cause this syndrome. All body cells are meant to have 46 chromosomes, but in this condition some cells may have 45 or 47. An error in very early fetal development results in gonadal mosaicism. Research is currently being conducted to identify which chromosome the gene defect is on.
How is Opitz trigonocephaly syndrome diagnosed?
A diagnosis for genetic diseases can be difficult. Medical history, physical exams, symptoms, and lab tests may all be used to diagnose this condition.
What are the treatments for Opitz trigonocephaly syndrome?
There is no cure for this condition; treatment is symptomatic. If the triangular skull puts pressure on the brain, surgery may be performed to relieve it. Genetic counseling is recommended for the families of those with this syndrome.