Aneuploidy is a genetic condition in which a cell or organism has an irregular number of chromosomes other than the typical or diploid (2n) set of chromosomes for the species.
Pfeiffer syndrome (SP, Pfeiffer syndrome) is a rare genetic developmental disorder characterized by abnormalities in the formation of the head and face, as well as deformities of the bones of the skull and the hands and feet.
One of the rare hereditary connective tissue pathologies is arachnodactyly – a deformation of the fingers, accompanied by elongation of the tubular bones, skeletal curvatures, disorders of the cardiovascular system and organs of vision.
A relatively rare disease, ectodermal dysplasia, is a genetic disorder characterized by a disruption in the functionality and structure of the derivative elements of the outer layer of the skin.
Superior orbital fissure syndrome, pathological ophthalmoplegia - all this is nothing more than Tolosa Hunt syndrome, which is a lesion of the structures in the superior orbital fissure.
A congenital anomaly caused by abnormal structure of cranial nerves is Moebius syndrome. Let's consider its causes, symptoms, diagnostic and correction methods.
