Multisystem Comorbidities Associated With Orofacial Dysfunction in the Appalachian Region: A Retrospective Analysis

Cleft lip and/or palate are among the most common congenital anomalies, often accompanied by systemic comorbidities. In rural regions such as Appalachia, barriers to healthcare access may delay comprehensive diagnosis and multidisciplinary care.

A retrospective review of 83 patients with cleft anomalies treated between 2017 and 2021 at a rural academic hospital in West Virginia was conducted. Demographics, cleft type, functional impairments, comorbidities, and syndromic associations were analyzed. χ² tests were used to assess associations.

Forty-one out of 83 patients were female, and the most common defect was an isolated cleft palate (n = 44). Isolated cleft palate was the most common defect (53%), with a female predominance. Significant associations were found between cleft anomalies and cardiac (P < 0.000001), central nervous system (P < 0.000001), endocrine, gastrointestinal, renal, genitourinary, and musculoskeletal comorbidities. More than 25% (n = 22) of patients had a known genetic or chromosomal syndrome, particularly those with isolated cleft palate (n = 18), followed by cleft lip and palate (n = 3). Functional impairments, including feeding (32.5%), speech (20.5%), and hearing (8.4%), were also common.

Multisystem comorbidities are prevalent among cleft lip and/or palate patients in the Appalachian region, especially in those with cleft palate. Early identification of associated anomalies is critical to guiding multidisciplinary management and improving outcomes in underserved populations.