There are many types of craniofacial disorders, and this section will focus on the most common ones: Cleft lip and cleft palate, Apert syndrome, velocardiofacial syndrome, and Robin sequence. Since the oral manifestations of these diseases are closely related, the oral health management of the patients with craniofacial abnormalities will be discussed at the end of the section. African Americans. Cleft palate occurs more frequently in females, while cleft lip occurs more frequently in males. The multifactorial nature of the disorder has kept the genetics from being clearly understood. Most children born with cleft lip or palate have no other associated syndrome. Diagnosis of clefting can be made prenatally via ultrasound (Tonni et al., 2023). Along with head and neck features, patients with Apert syndrome demonstrate webbing of the fingers and toes, called syndactyly . Dental features include a narrow, high- arched palate, prognathic mandible secondary to maxillary hypoplasia, and severe dental crowding. A preliminary diagnosis of Apert syndrome can be confirmed by testing for a genetic mutation in the fibroblast growth factor receptor-2 gene on chromosome 10 (I-Namnam et al., 2021). Treatment options for the patient with Apert syndrome are limited. Surgical intervention of the synostotic cranial sutures is possible and will allow for more typical head and neck development. Separation of the webbed fingers and toes can also be considered to allow more favorable function during growth and development (Aversano et al., 2017). Szcawinska-Poplonyk et al., 2023). The most frequently occurring of these abnormalities include tetralogy of Fallot, pulmonary atresia, and ventricular septal defect. The thymus gland is responsible for T-cell maturation, and its dysfunction can cause immune response issues. When the condition is detected early, surgical intervention can correct the associated cardiac disorders. Patients may exhibit elongation of the face, flattening of the cheeks, and a moderate to severe retrognathic (underdeveloped) mandible. Patients with this syndrome may experience learning disabilities, hearing loss, speech problems, and behavioral management problems (Funato 2022). Use of a team approach, including speech pathology and psychology referral, can increase the chances of an improvement in function in these areas. Robin sequence. The incidence of this disorder ranges from 1 in 8,500 to 1 in 14,000 live births, with equal rates of occurrence in males and females (NORD, 2018). Robin sequence can occur with velocardiofacial syndrome. In addition to the main findings mentioned, patients may present with learning disabilities, speech difficulties, feeding difficulties, and orofacial findings (Watted, 2020). Infants with Robin sequence quite often have respiratory and airway issues associated with the disorder. Surgical therapies to improve function include tracheostomy to improve respiratory function and the more conservative mandibular distraction osteogenesis. The latest research indicates that the latter may be the preferred approach for improving the patient’s long-term ability to breathe, eat, and speak (Runyan et al., 2018).
in 650 live births present with a craniofacial abnormality (Stanbouly et al., 2022). Research has demonstrated multifactorial causes for the many types of craniofacial abnormalities. These causes include genetic factors, environmental factors, coenzyme issues (e.g., folic acid deficiency), and a combination of these factors (Stanbouly et al., 2022). Cleft lip and cleft palate The most common craniofacial abnormality in the U.S. is cleft lip, with or without cleft palate. The incidence of cleft lip without cleft palate is estimated to be 1 in 940 live births (American Association of Oral and Maxillofacial Surgeons, 2018). Cleft palate without cleft lip appears in 6.35 of 10,000 live births (National Institute of Dental and Craniofacial Research, 2022). Clefting is most common in Native American and Asian patients, and least common among Apert syndrome Apert syndrome was first described in 1906 by French physician Eugene Apert. It occurs in roughly 15.5 per million live births worldwide and is thought to have an autosomal dominant genetic cause (Alam et al., 2022). Patients with this condition present with early fusion of the cranial sutures, which is called craniosynostosis . As the infant develops, craniosynostosis causes abnormal growth patterns in other areas of the head and neck. These include an extremely prominent forehead, very low-set ears, hypertelorism (very wide-set eyes), and severe underdevelopment of the midface. Premature suture closure leads to a lack of accommodation for brain growth. Left untreated, the condition results in brain damage, usually resulting in slow intellectual development and aberrations in sight and hearing (U.S. National Library of Medicine, 2019). Velocardiofacial syndrome As the name implies, velocardiofacial syndrome includes anomalies of both facial/cranial structures and structures of the heart. The disorder was discovered in 1968 by endocrinologist Angelo DiGeorge. The disorder shows autosomal dominant genetic inheritance, although the mutation occurs on chromosome 22, unlike Apert syndrome, in which the mutation occurs on chromosome 10. The condition is the most common craniofacial syndrome associated with cleft palate, with a prevalence of 1 in 4,000 (Funato, 2022; Szcawinska-Poplonyk et al., 2023). More than 180 clinical features are associated with velocardiofacial syndrome, although not all features are found in every patient. Typical findings include palatal abnormalities, hypernasal speech, cardiac defects, hypotonia, and a defective thymus gland. Seventy-five percent of patients have associated cardiac abnormalities (Funato, 2022; Robin sequence Robin sequence is named after Dr. Pierre Robin, a French stomatologist who first described this syndrome in 1923. In addition to frequently featuring a cleft palate, the condition presents with a severely underdeveloped mandible and extremely large tongue (due to a condition called glossoptosis , which involves a displacement of the tongue), frequently leading to respiratory obstruction. The term sequence is used because the underdeveloped mandible initiates a sequence of events that influences abnormal tongue development and cleft palate formation. The cause of Robin sequence is not fully understood, as there may be several factors responsible for this disorder (National Organization for Rare Disorders [NORD], 2018). Neurological abnormalities in utero as well as yet undefined genetic mutations may be implicated in the cause of
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