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 - deformity of the fingers, accompanied by lengthening of the tubular bones, skeletal curvatures, disorders of the cardiovascular system and visual organs.
A relatively rare disease - ectodermal dysplasia - is a genetic disorder, accompanied by a disorder in the functionality and structure of the derived elements of the outer layer of the skin.
Syndrome of the superior orbital fissure, pathological ophthalmoplegia - all this is nothing more than Tholos Hunt syndrome, which is a lesion of structures in the superior orbital fissure.
A congenital anomaly caused by an abnormal structure of the cranial nerves is the Moebius syndrome. Consider its causes, symptoms, methods of diagnosis and correction.
