Phocomelia

Focal melia (phocomeliia) is a fairly rare developmental defect that manifests itself in the absence of the proximal (upper) parts of the upper and/or lower extremities in a person. The patient's limbs remain undeveloped and are connected to the body through a short section of the stump. This defect in human development is a rare disorder and is incompatible with life at the time of discovery. This phenomenon occurs due to the effect of the toxic drug tazamide on the body of a pregnant woman in the first months of the child’s pregnancy. As a result of this drug exposure, a serious disruption occurs in the development of developing tissues during intrauterine development, as a result of which the limbs do not develop, stop growing, are formed at a relatively early stage in an underdeveloped form, up to complete aplasia of the phalanges of the body, which is explained by the particularly slow development of brain structures, bones and muscle tissue. The appearance of such a phenotype is rare among the world's population, but always leads to the formation of impaired adaptability and functioning, vital activity and self-sufficiency, requiring specialized



Phocomelia – children with short five-fingered arms or legs, the upper limbs are most often affected. It is extremely rare - 3 out of 6 million newborns. * Characteristic features - the body is usually short and wide, while the limbs are normally developed. In the affected limbs, the upper third of the hand or foot, most often the legs, are shortened