Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report

Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome is a rare multi‑system developmental disorder. To date, only a few cases have been documented worldwide. The present case report describes the first case of CODAS syndrome in Iraq. A 4‑year‑old female patient of consanguineous parents who was diagnosed with CODAS syndrome, presented for a follow‑up of bilateral ureterocutaneostomy due to renal disease. Her history of abnormalities began at birth when she was diagnosed with respiratory distress syndrome. At 2 months of age, she was diagnosed with adrenal neuroblastoma. At 5 months of age, she developed bilateral cataracts and then pseudoptosis. Subsequently, she underwent anoplasty to correct anal stenosis, which had been diagnosed at 45 days of age. At 23 months of age, magnetic resonance imaging of the spine demonstrated the loss of normal cervical lordosis. At 26 months of age, imaging of the lower limbs revealed bilateral coxa vara with irregular distal femoral development, absent femoral epiphyses, bilaterally absent patellae and knock knees. At 3 years of age, molecular genetic analysis confirmed CODAS syndrome with a homozygous Lon peptidase 1 (LONP1) gene variant (NM_004793.4 c.2008G>T; p. Ala670Ser). The syndrome poses challenges for clinicians, as it is extremely rare. The majority of documented cases of CODAS syndrome have been reported from Europe, the Americas, Saudi Arabia, Japan, Korea and China. To the best of our knowledge, no cases of CODAS syndrome have been documented within the Iraqi population to date. The first Iraqi case of CODAS syndrome, associated with a homozygous variant in the LONP1 gene (p. Ala670Ser), has been reported.