Zeeman Syndrome

Zeeman syndrome

Zeeman syndrome is a rare genetic disorder characterized by abnormal development of the limbs. The main symptoms include underdevelopment and absence of bones in the forearms and lower legs.

The cause of the disease is a mutation in the TBX5 gene, which is responsible for the normal development of limbs in the embryonic period. The mutation leads to impaired differentiation of progenitor cells of bones and muscles of the limbs.

Diagnosis is based on the clinical picture and molecular genetic analysis. Treatment is symptomatic and aimed at improving limb function through prosthetics and physiotherapy.

Zeeman syndrome was first described by the Dutch physician Wim Zeeman in 1971, which is why it bears his name. The prevalence is 1 case per 1,000,000 births. The prognosis for life is favorable with adequate rehabilitation.