Acrocallosal syndrome

Acrocallosal Syndrome (ACS) is characterized by multiple malformations, including coronary agenesis (CC), distal limb malformations, craniofacial anomalies, and intellectual deficits.

About one-third of patients are diagnosed with arachnoid cysts. Common anomalies are arachnoid cysts, underdevelopment of the medulla oblongata, temporal lobe and cerebellar vermis, as well as micropolygyria and clinodactyly.

The cause of ACS is due to mutations in the kinesin gene KIF7 (15q26.1) and in the GLI3 gene (7p14.1), both of which are active in the sonic hedgehog pathway of the cilia and most likely in the course of Inheritance is autosomal recessive. The prognosis of the disease is dependent on the development of malformations, hypotonia and seizures.