Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, inherited bone marrow failure (BMF) disorder characterized by severe thrombocytopenia due to the absence or marked reduction of megakaryocytes in the bone marrow. Caused by biallelic mutations in the MPL gene encoding the thrombopoietin (TPO) receptor, CAMT presents early in infancy with bleeding symptoms and often progresses to pancytopenia. Elevated thrombopoietin levels, normal platelet size, and lack of response to immune therapies support the diagnosis, which is confirmed through genetic testing. CAMT is classified into three subtypes based on disease severity and progression. The only curative treatment is hematopoietic stem cell transplantation (HSCT), with best outcomes achieved in early childhood before the onset of transfusion-related complications. Bone marrow is the preferred graft source. Supportive care, including transfusions and infection prophylaxis, remains critical prior to HSCT. Accurate early diagnosis and timely referral to transplant centers are essential to improve outcomes in this life-threatening disorder.