Cohen Syndrome With Complex Medical Complications: A Case Report.

Cohen syndrome (CS) is a rare autosomal recessive disorder marked by developmental delays, distinct facial features, and a variety of systemic manifestations. We present a case of a 28-year-old male previously misdiagnosed with Prader-Willi syndrome who exhibited recurrent generalized weakness, fever, fatigue, and significant hemoglobin drops requiring multiple blood transfusions due to thalassemia major. The patient displayed characteristic CS features, including developmental delays, distinct facial characteristics, morbid obesity, and heterochromia iridis.