Phocomelia

Phocomelia (phocomelia; from the Greek words phoke - “seal” and melos - “part of the body, limb”) is a congenital anomaly of the development of the limbs, in which there is a complete or partial absence of long tubular bones, as a result of which the limbs have a shortened shape and resemble flippers.

In complete phocomelia, the shoulder and thigh are absent, and the hands and feet are attached directly to the body. With partial phocomelia, the proximal parts of the limbs are preserved. The hands and feet are usually developed normally.

Phocomelia most often affects the upper extremities. The causes of phocomelia may be genetic disorders, exposure to teratogenic factors (thallium, rubella virus) during pregnancy.

Treatment of phocomelia is complex - orthopedic correction, prosthetics, surgical interventions to improve limb function. The prognosis depends on the severity of the lesion. In severe forms of phocomelia, disability is inevitable.

Phocomelia is a rare genetic disorder that causes children to develop abnormally short or missing limbs. The disease is caused by a mutation in the gene that is responsible for the development of limbs during fetal development.

Phocomelia can appear in different forms, for example, a child may have short arms and legs, or missing limbs. In some cases, the disease can lead to serious complications, such as musculoskeletal disorders, breathing problems, and impaired brain development.

Treatment for phocomelia can be difficult because the disease is associated with genetic mutations that cannot always be corrected. However, in some cases, treatment may include surgery on the limbs to improve function and help the baby develop.

It is important to note that phocomelia is a rare disorder, with an incidence of approximately 1 in 25,000 to 30,000 births. However, parents whose children have phocomelia should be aware of the possible complications and risks associated with this disease.

Overall, phocomelia is a serious genetic disorder that requires a comprehensive approach to treatment and support from family and medical personnel.