Background Apert syndrome (AS) is a d ominant autosomal genetic disorder caused by heterogeneous mutation in FGFR2 genes on chromosome 10q26 and belongs to a group of disorders known as craniofacial congenital malformations. AS can promote the premature fusion of bones in the skull, hands, and feet. The incidence of infants born with Apert syndrome is approximately 1 in 50000 to 80000. In this study is emphasized the importance of clinical and genetic approaches in the research on the specific diagnosis in patients with Apert syndrome. Case r eport. The clinical particularities of Apert syndrome are determined by craniosynostosis result from the premature fusion of the skull bones. The child present following clinical features: short anterioposterior diameter with high forehead and flat occiput , flat facies, shallow orbits, proptosis, hypertelorism, small nose, maxillary hypoplasia, a cleft palate, low set ears, and cutaneous syndactyly of the fingers and toes. The neuroimaging of the head revealed craniosynostosis of the skull bones. The diagno sis of Apert syndrome was confirmed by clinical manifestations and paraclinical investigations. The treatment of Apert syndrome is directed toward the specific symptoms that are apparent in each individual. Conclusions. Clinical and genetic approaches dur ing genetic counseling combined with a number of new methods of neonatal diagnosis in patients with Apert syndrome can reduce the frequency of chromosomal abnormalities and congenital malformations.