Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report

Oral-Facial-Digital Syndrome Type 1 (OFD1) is a genetic disorder marked by diverse malformations of the oral cavity, face, and digits.

This case report presents a female patient who was first referred to the Department of Pedodontics at Istanbul University at 18 months of age due to the absence of teeth in the upper molar region and who has been followed up until 4 years and 11 months. The patient, born prematurely to a consanguineous union, had a history of low birth weight, asphyxia, and a prolonged 2-month intensive care unit stay. Clinical examination revealed multiple dysmorphic features, including facial anomalies such as dolichocephaly, macrocephaly, saddle nose deformity, droopy ears, and thin hair and eyebrows. Intraoral evaluation demonstrated misalignment of the dental arches, abnormal tooth positioning, a bifid lobulated tongue, and residual sutures from previous cleft palate surgery. Although the upper primary central incisors were present, the lower incisors were initially absent, with subsequent follow-ups showing their delayed eruption. At 39 months, further evaluation revealed malposed and rotated upper primary dentition, while certain lower deciduous central incisors remained undetectable. The patient was managed with protective dental care, regular 3-month follow-ups, and comprehensive parental education on oral hygiene, alongside coordinated consultations with orthodontic services.

This report highlights the clinical heterogeneity of OFD1 and underscores the importance of early diagnosis, multidisciplinary management, and continuous monitoring to improve oral health outcomes in affected patients.