Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple body systems and is characterized by a pattern of abnormalities present at birth (congenital) as well as behavioral and cognitive problems.

Children with Freeman-Sheldon syndrome often have small mouths and tightly pursed lips, creating a whistling facial appearance. This is a congenital disorder that can cause permanent disabilities, so early diagnosis and treatment are needed to limit symptoms.

According to WHO statistics, 2015. Of the 2.68 million neonatal deaths, 11.3% (equivalent to 303,000 children) died due to congenital malformations. Congenital malformations cause many long-term consequences for individuals, families and society. Common and severe congenital malformations include Down syndrome, congenital heart defects, and neural tube defects. With more than 50% of congenital malformations of unknown cause, how can we diagnose and prevent them?