Expanding the Phenotypic Spectrum of Degcags Syndrome: Novel Craniofacial and Oral Findings.

Abstract

Aims: Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS) syndrome (OMIM #619488) is a rare autosomal recessive disorder caused by pathogenic variants in ZNF699 and characterized by developmental delay and multisystem involvement. Although several systemic and craniofacial manifestations have been described, oral findings have not yet been reported. This case report describes the craniofacial and oral features of a patient with DEGCAGS syndrome, contributing to the expansion of its phenotypic spectrum.

Methods and results: A 10-year-old girl with a homozygous pathogenic variant in ZNF699 was referred for dental evaluation. Clinical examination revealed hair thinning, dolichocephaly, retromicrognathia, synophrys, smooth philtrum, thin upper lip, increased overjet, and deep bite. Intraoral findings included generalized spacing, gingivitis, active carious lesions, hypomineralization of primary molars, talon cusps on the maxillary central incisors, erosive tooth wear, and signs consistent with sleep bruxism. Radiographic evaluation revealed taurodontism, particularly in teeth 16 and 26, shortened roots in the mandibular incisors, and increased pericoronal space associated with developing teeth.

Conclusion: These findings expand the oral phenotype of DEGCAGS syndrome and highlight the importance of dental evaluation in patients with rare genetic disorders. Further reports are needed to better characterize the oral manifestations associated with this condition.