Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder. According to existing research, it is estimated that 1 in every 65,000 to 200,000 newborns will be affected, with equal incidence rates in both males and females. The prevalence of the disease significantly increases with the age of the paternal line and is believed to have a selective advantage in male germ cells. The syndrome has complete penetrance, but its manifestations vary, leading to diverse phenotypes within the same family unaffected by the severity of deformities.
There are three main characteristic features of Apert syndrome: syndactyly of the hands and feet (specifically the fusion of digits 2, 3, 4, and 5 in the hands and toes in the feet), below-average intelligence, and distinctive facial features, including wide-set eyes and midface retrusion.
Specifically:
Syndactyly: Fusion of digits 2, 3, 4, and 5 in the hands, and complete syndactyly in the feet.
Intelligence: Some may not start speaking or recognizing parents until around 2 years old, and intelligence is below the average age for children.
Facial deformities: Severe midface retrusion, wide-set eyes, and protruding eyeballs.
In addition to the mentioned symptoms, there may be abnormal development of the oral system. The central nervous system is often associated with functional impairment, premature closure of bone sutures, and in severe cases, symptoms of increased intracranial pressure. Spina bifida, joint contractures, and abnormalities in the cardiovascular system are also possible.
Due to the relatively high mortality rate of newborns with this disease, children of older parents, especially with increasing parity, have a higher likelihood of being affected. Therefore, regular prenatal examinations at the obstetrics department are recommended to detect abnormalities early and ensure proper care and intervention for optimal breeding.
The optimal treatment period for Apert syndrome is around the sixth month after birth when the child's cardiopulmonary development is sound. At this time, the separation of fused skin in the fingers and toes will be less than in older children, making early intervention crucial for better recovery.
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