Cornelia de Lange (CDLs) is a rare syndrome, which is characterized by multiple congenital anomalies including microcephaly, mental retardation, delayed growth and development, hypertrichosis, and defects in heart, gastrointestinal, renal and upper limbs.  The syndrome prevalence is 1 per 30,000 to 50,000 live births. The diagnosis is mainly based on clinical manifestations. It can be inheritated in Autosomal dominant or X-linked forms through mutations in at least five genes NIPBL, SMC1A, HDAC8, RAD21 and SMC3. This article introduces a case of Cornelia De Lange syndrome.

Case: This study reports a 40 week boy with Cornelia de Lange syndrome, which has been diagnosed by Ultrasonography. The clinical manifestations were left lip and plate, cardiomegaly, cryptorchidism, deformities in both arms from elbows to fingers and existing only one finger. He passed away after 3 days of birth.

Conclusion: An increased awareness about this syndrome may result in an early diagnosis and a decrease in morbidity.