Apera Syndrome

Co-author(s): Lacy Windham, MD Apert syndrome is a rare genetic disorder and poses a serious risk to the baby at birth. Due to a genetic mutation, patients' limbs may not develop correctly. The disease can also cause other unpleasant symptoms, for example, unusual facial features, slow growth

Apera syndrome (Acrocephalosyndactyly) is an anomaly of the development of the skin and skeleton, characterized by asymmetrical excessive fusion of the fingers (“dactia”), head (“cranio”) and hands (“acro”). Syn.: acro-cranio-dysplasia, acrotopia, acrocepiomicrodysplasia. In children, bilateral acroenoophthalmia, median and bilateral hypoplasia of the upper jaw, syndactyly of the hands or feet are most often observed. The development of the syndrome usually leads to disability, severe

Apera syndrome

Apera syndrome is a rare genetic disease that is characterized by impaired development of facial and brain structures, as well as limbs. Its development is associated with defects in the genes responsible for the formation and growth of these organs. Diagnosed in newborns, less often in infants and adolescents. Often causes disability and restrictions in the patient's life. Treatment is usually aimed at reducing symptoms and helping with social adjustment.

**Etiology and pathogenesis**

Apert syndrome or acrocephalobrachycephalobrochysyndactyliitis is a condition in which a person is born with many severe developmental abnormalities in the head, neck and limbs. It is caused by mutations in the FGFR3 and PIK3CA genes. These genes are responsible for the growth and development of many tissues, including nerve cells, muscles and human bones. Mutations in these genes can lead to serious developmental defects, which in turn can lead to various abnormalities in the human body, such as brain diseases, the absence of certain facial structures, and defects in the fingers and toes.

As people with Apert syndrome grow, they may experience headaches, muscle weakness, and poor coordination. Their hands and feet may be abnormally small and have clawed fingers. Most patients may also experience mental retardation of varying severity. Most of those who survive birth can become independent in daily life. However, many people suffering from this rare disease require constant medical monitoring and care.