The article presents a description of the clinical case of mental retardation associated with Seckel syndrome in an adult patient with visual impairments. Seckel syndrome is a rare autosomal recessive genetic disorder characterized by intrauterine growth retardation, microcephaly, short stature, distinctive craniofacial features due to the specific structure of the skull and nose ("bird-headed dwarfism"), and mental retardation. The clinical manifestations of the syndrome include a combination of neurological, ophthalmological, somatic, and skeletal anomalies. Visual impairments are uncommon but significantly limit social functioning.

The presented patient exhibited microcephaly, pronounced craniofacial features, and cryptorchidism. Ophthalmological pathology included amblyopia, myopic astigmatism, and optic nerve atrophy. Moderate social maladaptation was observed. A clinical and genetic examination confirmed the autosomal recessive nature of the disorder. The discussion emphasizes the challenges of differential diagnosis, the possibility of pathomorphosis of the clinical picture, and the importance of a multidisciplinary approach to the early detection of Seckel syndrome. Comprehensive rehabilitation measures are required to improve quality of life and reduce the level of disability, even in the presence of marked cognitive impairment.