Opitz trigonocephaly syndrome(English)

• rare genetic disorder (MIM #211750) characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate (around 50% of patients die during the first year of life mostly due to respiratory failure and cardiovascular malformations). Different patterns of inheritance and genetic heterogeneity are known. Whole exome and genome sequencing may be informative; aka trigonocephaly C syndrome, trigonocephaly syndrome
• MAGEL2 gene, SYS, SHFYNG, BOS
• Congenital disorders
• https://doi.org….1038/srep44138