Congenital midline cervical cleft (CMCC) is a rare congenital anomaly of the anterior neck, with sporadic occurrences reported in the literature (1, 2). It is characterized by a thin, slender, atrophic midline fissure in the skin, underlain by a subcutaneous fibrous cord that creates a soft tissue protuberance (1, 3, 4). Clinically, CMCC presents as a vertically oriented erythematous strip with fluid exudation and, in some cases, mucoid discharge from a blind-ended sinus (1, 3, 4). This sinus extends between the mandibular symphysis and the suprasternal notch (1, 3, 4). CMCC may also be associated with additional developmental anomalies, such as bifid mandible and microgenia (1).

The etiology of CMCC is hypothesized to originate from a failure of midline fusion of the branchial arches during embryonic development, disrupting the normal migration of mesodermal cells from the developing tongue to the ventral neck (3, 5). This aberrant migration results in the formation of a complex unique composite structure composed of skin, skeletal muscle, fibrous tissue, and exocrine elements (3, 5). Although CMCC is an uncommon condition, it can significantly impact a patient's quality of life if left untreated (6). Progressive complications may include neck extension impairment, microgenia, exostosis, torticollis, and recurrent infections, underscoring the importance of early diagnosis and surgical intervention (6).

The management of CMCC requires complete excision of anomalous tissue to prevent the formation of cicatricial contractures and associated morbidities over time (2, 6, 7). However, simple linear closure technique should be avoided, due to its high risk of hypertrophic scarring and recurrent neck contracture (2, 6, 7). Instead, Z-plasty closure is the preferred surgical technique, which involves the transposition of two triangular skin flaps to effectively elongate a linear scar contracture, reconstruct the cervicomental crease, and reduce contracture formation (6, 7). In this report, we describe a case of CMCC successfully managed by using Z-plasty closure. Furthermore, we provide a comprehensive review of the literature on CMCC and its surgical management.

We report the case of a full-term, healthy 3-day-old female newborn who was referred to the pediatric surgery clinic due to a congenital anomaly identified at birth. The malformation was localized at the midline of the anterior neck. On examination, a painless lesion measuring approximately 3 cm in length and 1 cm in width was observed. The lesion did not impair breathing or swallowing (Figure 1). It was characterized by an open sinus covered with a mucous membrane, raising suspicion of a potential fistulous tract at its caudal terminus. Notably, the newborn had no other congenital anomalies, and there was no relevant family history. This suggests a non-related genetic predisposition. The lesion remained stationary during tongue protrusion and swallowing, indicating no attachment to the hyoid bone or thyroid gland, both of which were assessed to be structurally normal on physical examination.

Given the unusual presentation and potential clinical implications, a comprehensive diagnostic evaluation was initiated. Preoperative clinical assessment revealed normal neck mobility, with no restriction of extension or rotation. Ultrasonography served as the primary imaging modality to explore the lesion's depth and its relationship to surrounding structures (Figure 2). The ultrasound revealed a superficial anomaly with no evidence of deep tissue involvement or communication with adjacent anatomical structures. These findings guided a multidisciplinary team—including specialists from pediatric surgery, neonatology, and pediatrics—to proceed with surgical intervention to fully delineate the extent of the malformation and prevent possible complications.

Surgery was performed under general anesthesia with complete excision of the epithelial cleft and underlying fibrous cord. Intraoperative exploration confirmed a CMCC with a caudally positioned duct terminating above the sternum, without extension into deeper structures, thereby excluding the possibility of a complex fistulous tract. A fusiform incision was fashioned, and the specimen was excised en bloc to the level of the investing fascia, measuring approximately 3.5–4.0 cm in length. Hemostasis was secured with bipolar cautery. Reconstruction was accomplished using a 60° Z-plasty. The central limb, corresponding to the excised tract, measured 3.5 cm. From each terminus of the central limb, lateral limbs of equal length (3.5 cm) were designed at 60° angles. Triangular flaps were carefully elevated in the subdermal plane, preserving vascularity, and transposed across the axis without undue tension. This maneuver provided effective scar lengthening and reoriented the closure along relaxed skin tension lines. The 60° angle was selected for its reliable balance between flap viability and length gain. Layered closure was performed with 5-0 Vicryl sutures to the dermis and 6-0 Vicryl sutures to the skin. Flaps demonstrated excellent viability with precise inset and alignment. A light sterile dressing was applied. Postoperative recovery was uneventful, with routine wound care and satisfactory healing (Figure 3).

Postoperative histopathological analysis of the excised tissue confirmed the diagnosis of a CMCC, with no evidence of fistulous structures or ectopic salivary gland tissue. These findings were critical in excluding other differential diagnoses and solidifying the classification of the anomaly (Figure 4).

At the 6-week follow-up, clinical examination demonstrated satisfactory wound healing with localized erythema and crusting at the surgical site (Figure 5). The postoperative course was uneventful. Follow-up examinations demonstrated excellent wound healing with no signs of functional impairment or cosmetic disfigurement. The absence of complications or recurrence during the follow-up period underscores the success of the surgical approach and highlights the importance of early intervention in such cases. Chronological timeline of the presented case of CMCC, from birth through 2-year follow-up (Figure 6).

CMCC is a rare congenital anomaly of the anterior neck, first described in the medical literature in the 1940s (2, 3, 6, 8, 9). It has been referred to by various terminologies, including congenital midline cervical cord/cleft, medial cleft, median fissure of the neck, mentosternal dysraphia, and pterygium colli medianum (2, 3, 6, 8, 9). CMCC exhibits a slight female predominance, with an estimated female-to-male incidence ratio of approximately 2:1 (6).

The etiology of CMCC remains poorly understood, necessitating consideration of both genetic and environmental factors (2). Researchers have proposed various hypotheses about their origin. A predominant theory suggests that these clefts represent a spectrum of developmental abnormalities in the branchial arches, originating from a disruption in the fusion between the first and second branchial arches at the midline during embryonic development (2, 6, 9–11). This theory explains the observed variations in the anomaly, which range from a simple cleft-less cord to the complete absence of the thyroid cartilage and hyoid bone (6, 9, 12). The hypothesis suggests that the underlying mechanism for the incomplete branchial fusion is associated with vascular anomalies that leads to ischemia, tissue necrosis, and subsequent scarring (6, 13–17). Other factors that contribute to CMCC development include the persistence of remnants of the thyroglossal duct and sinus cysts, pressure exerted on the cervical area by the pericardial roof, rupture of pathological epithelial adhesions in the first branchial arch between the cardiohepatic fold and the ventral part, and the absence of mesenchymal tissue in the cervical midline (6, 13–17). Additional proposed mechanisms involve aberrant interactions between ectoderm and mesoderm, impaired mesodermal fusion along the distal branchial arches, and defective differentiation of mesenchymal tissue (6, 17, 18). These hypotheses enhance our understanding on the formation of CMCC in the anterior neck.

In conclusion, CMCC is a rare anomaly that demands early surgical intervention to prevent progressive contracture, functional limitation, and cosmetic deformity. Z-plasty remains the gold standard of repair, offering reliable lengthening and favorable outcomes. The present report, however, is inherently limited by its single-case design, which cannot establish the universality of surgical success or permit comparison across different Z-plasty techniques. Longer follow-up in larger cohorts, ideally through multicenter case-control studies, will be necessary to determine the durability of functional and aesthetic results and to clarify the relative advantages of different flap angles.

The absence of genetic testing in this patient represents another important limitation, as it prevents exclusion of a contributory hereditary factor and underscores the need for systematic molecular investigations. Comprehensive genomic profiling could help define the role of genetic predisposition in CMCC, refine risk stratification, and improve counseling for affected families. Future advances in regenerative medicine—particularly stem cell–assisted flap transplantation and other biologically augmented strategies—may complement conventional Z-plasty by enhancing flap survival, reducing contracture recurrence, and improving long-term scar quality. Rigorous, collaborative studies will be essential to translate these approaches into evidence-based, personalized care for patients with CMCC.