Mairaj K. Ahmed

By Mairaj K. Ahmed, Anthony H. Bui and Emanuela Taioli

Orofacial cleft (OFC) anomalies are amongst the most common congenital anomalies and the most common craniofacial anomalies. Despite their poorly characterized etiologies, cases of OFC are usually grouped by epidemiological studies as cleft lip, with or without cleft palate (CL/P), and cleft palate alone (CPO). Incidence of CL/P and CPO differs according to gender and ancestry and may vary widely across studies. Cases of OFC are characterized as either “syndromic” or “nonsyndromic,” with further classification of nonsyndromic cases into isolated cases and cases that present with additional malformations. The genetic bases for many syndromic cases of OFC have been previously elucidated. Genetic associations have been described for nonsyndromic OFC as well. Importantly, etiology of OFC is known to involve interaction between genetic and environmental factors, including maternal nutrition and exposure to teratogenic agents. Furthermore, evidence points toward epigenetic as well as genetic factors influencing OFC etiology. Recent studies have begun to explore the association between CL/P and cancer. These studies report higher incidence of cancer among patients with CL/P and their family members as well as identification of common genetic markers mediating this increased risk, although much remains unknown about this link.

Part of the book: Designing Strategies for Cleft Lip and Palate Care

By Mairaj Ahmed, Yunfeng Xue and Ayisha Ayub

Orofacial clefts represent the most common congenital craniofacial anomaly worldwide. This condition is best managed by an interdisciplinary team of specialists, often with gratifying results for both the patient and the care providers. Despite recent advances in the management, it remains a challenge today to provide cleft care in low- and middle-income countries (LMIC) due to the lack of basic health care infrastructure and long-term follow-up. International cleft mission trips have traditionally been successful in providing reconstructive plastic surgery to communities with limited resources. More recently, there has been a global effort in the cleft care community to facilitate development of sustainable local cleft care centers that are capable of providing longitudinal, comprehensive care to the indigenous population. This chapter focuses on the elements that are necessary for running a successful international cleft mission and a local cleft care facility, which include the essential personnel, operational protocols, equipment, logistics, patient selection, and follow-up. The challenges and future directions of providing cleft care in LMIC are also discussed.

Part of the book: Designing Strategies for Cleft Lip and Palate Care