Costello Syndrome: Case Report and Review of Literature

Abstract

Costello syndrome is a rare inherited disorder due to a genetic mutation in the HRAS (Harvey Rat Sarcoma Virus) proto-oncogene that affects multiple organ systems. Individuals typically present with craniofacial abnormalities, short stature, poor weight gain, developmental delays, cardiac, dermatological, musculoskeletal, oral abnormalities and cancer predisposition, particularly rhabdomyosarcoma. This report presents a clinical case of a 13-year-old male diagnosed with Costello syndrome. He was born from a consanguineous marriage and has a healthy sibling. General examination revealed intellectual disability with delayed speech and motor skills, short stature (height of 120 cm), distinct facial dysmorphisms, low-set ears, and macrocephaly (head circumference of 59 cm). Oral findings include a large mouth, thick lips, hypo mineralized enamel and macroglossia. Based on these clinical findings, a diagnosis of Costello syndrome was made. Genetic testing confirmed the diagnosis with a mutation in G12S in the HRAS gene. This report highlights a case of Costello syndrome with oral manifestations and reinforces the importance of early detection and a multidisciplinary approach for improved patient outcomes.