Transverse facial cleft, also known as congenital macrostomia or Tessier type 7 cleft, is a rare birth anomaly affecting facial development. It involves a gap or split in the facial tissue, extending from the corner of the mouth towards the ear. This condition results from the failure of certain facial processes to fuse during embryonic growth, impacting the mouth and cheek area.
Understanding Transverse Facial Cleft
Transverse facial cleft is characterized by a visible split or opening that extends laterally from the angle of the mouth. The severity of this cleft can vary widely, from a subtle dimple or slight indentation near the mouth to a more pronounced opening extending significantly towards the ear, sometimes affecting underlying structures. These clefts can occur on one side of the face (unilateral) or on both sides (bilateral).
This condition is very rare, with incidence rates generally falling between 1 in 50,000 to 1 in 300,000 live births. It accounts for less than 0.5% of all facial clefts. While it can occur as an isolated finding, transverse facial cleft is frequently associated with other deformities, particularly those involving structures that develop from the first and second branchial arches.
Causes and Associated Conditions
The precise cause of transverse facial cleft is often unknown, or idiopathic. Potential contributing factors include genetic influences and environmental factors. It results from the failure of the maxillary and mandibular processes of the first branchial arch to fuse during embryonic growth.
Environmental factors, such as exposure to certain medications or toxins during pregnancy, have been considered without a definitive link.
Transverse facial cleft can occur in isolation, but it is frequently observed as part of broader conditions or syndromes. It is often associated with deformities of the first and second branchial arches, such as hemifacial microsomia, involving underdevelopment of one side of the face. Other associated conditions include Goldenhar syndrome, Treacher Collins syndrome, pretragal skin tags, microtia (underdeveloped ears), and cardiac anomalies.
Diagnosis and Treatment Approaches
Diagnosis of transverse facial cleft can occur prenatally through ultrasound if visible, but it is more commonly identified postnatally through physical examination shortly after birth. A detailed assessment of the cleft’s extent and any associated anomalies helps in planning treatment.
The primary treatment is surgical repair, which aims to restore both function and appearance. The surgical procedure often involves techniques like Z-plasty to reconstruct the oral commissure and reorient the orbicularis oris muscle, which controls lip movement. Depending on the severity and extent of the cleft, multiple surgical stages may be necessary.
Care involves a multidisciplinary team, including plastic surgeons, oral and maxillofacial surgeons, speech therapists, and orthodontists. Non-surgical interventions include speech therapy to address articulation or pronunciation difficulties, and feeding support, especially for infants, to ensure proper nutrition.
Long-Term Outlook and Support
The long-term prognosis for individuals with transverse facial cleft is positive regarding function and appearance. Modern surgical techniques allow for normal oral sphincter function and minimize speech defects, facilitating development and integration.
Despite successful initial treatment, some individuals may face ongoing challenges, including residual speech difficulties requiring continued speech therapy, eating issues necessitating dietary adjustments or specialized feeding techniques, and social integration considerations.
Long-term follow-up care is important to monitor development, address concerns, and provide additional interventions. This continuous care manages functional or aesthetic issues over time. Support groups and patient organizations play a valuable role, offering resources, guidance, and community for affected individuals and their families.