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

BACKGROUND

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.