It included 11 items, which captured demographic variables (age, sex, education level, employment status, marital status, urban/rural residence, living city), socioeconomic indicators (monthly household income quintiles, treatment-related financial burden graded as low/moderate/high), support group participation drivers (9 motivation categories), and self-reported caregiving burden severity (5-point Likert scale).

It included 20 items, and was divided into two parts, children’s clinical profiles and surgical experience. The clinical profiles including sex, age, birth weight, congenital anomaly subtypes (11 classifications), sensory function status (hearing/vision categorized as normal/abnormal/undetermined), other medical condition, feeding practices (preoperative methods: exclusive breastfeeding, formula feeding, mixed feeding, expressed milk; postoperative adaptations). The surgical experience (cleft repair status, age at surgery, cost, insurance coverage, additional surgery, intervention timing), and treatment experience metrics (satisfaction rate, doctor-patient communication, barrier identification), over all hospital rating and postoperative complaint.

It included 15 items, which assessed perinatal exposures (maternal age, gestational age, medication use, diabetes/hypertension complications), hereditary/environmental risk factors (familial HFM history, pollution exposure), and psychological adaptation trajectories encompassing post-diagnosis depressive symptoms (asymptomatic/mild/moderate/severe), condition disclosure patterns (non-disclosure/selective disclosure/public disclosure), overprotective parenting frequencies (never/occasional/consistent), and reproductive decision-making among primiparous women, emotional challenges post-diagnosis, behavioral recovery mechanisms.

Among 141 children with HFM, 66 (46.81%) were boys and 75 (53.19%) were girls. The mean age at enrollment was 45.45 ± 36.42 months, and the average birth weight was 3.27 ± 0.51 kg. Before surgery, feeding methods varied: 49 (34.75%) were breastfed, 11 (7.8%) were bottle-fed with breast milk, 47 (33.33%) had mixed feeding (breastfeeding and bottle-fed formula), and 34 (24.11%) were bottle-fed with both breast milk and formula. Of these, 95 (67.38%) underwent transverse cleft repair. Postoperatively, most maintained their preoperative feeding method (breastfeeding: 44.79%; bottle-feeding: 40.63%), while only 5.21% transitioned from bottle to direct breastfeeding (Table 3).

Multi-site malformation involvement was common in the children with HFM. The lateral facial cleft predominated, with right-sided involvement (46.1%) exceeding left-sided (31.91%) and bilateral presentations (3.55%). Microtia affected 36.88% of cases (unilateral: 36.88%, bilateral: 0.71%), while mandibular hypoplasia was observed in 52.48% (mild: 17.02%, severe: 35.46%). Auditory anomalies included external canal atresia (21.28%) and preauricular fistulae (12.06%). Among these cases, 48.94% displayed ipsilateral or bilateral ear tags, and 20.57% exhibited facial tags. Moreover, regarding the sensory functional impairments, 35 (24.82%) cases exhibited hearing deficits, and 20 (14.18%) cases had visual abnormalities. Notably, 10 children (7.09%, 6 boys and 4 girls) had both hearing and vision impairments. There were 36 (25.53%) cases reported other medical conditions, such as dermoid tumor, congenital heart disease, patent foramen ovale, scoliosis, polydactyly, craniosynostosis, unilateral renal agenesis, etc.

Among 95 children who underwent transverse cleft repair, the mean age at surgery was 9.14 ± 8.43 months (Table 4). Additional surgeries were required in 31.25% of cases. Parental satisfaction with surgical outcomes revealed varied perspectives. There were 35.42% of parents expressed satisfaction, 42.71% remained neutral, and 21.88% reported dissatisfaction. Postoperative complaints were visually summarized in Figure 1 through a word cloud analysis, which highlights the frequency of specific concerns based on caregiver-reported qualitative responses. The most prominent terms included “mouth,” “asymmetry,” “scars and “suture,” reflecting dissatisfaction with esthetic outcomes. For instance, specific complaints included “poor shape of mouth corner sutures,” “misaligned corners of the mouth,” and “long scar.”

Despite the relatively low satisfaction rate, 61.46% of parents would recommend their surgeon to other patients. Notably, preoperative communication gaps were evident, as 25% of parents received no explanations regarding surgery, and 50% were unaware of the suture methods used. Furthermore, the three most prevalent treatment barriers were identified as geographic inaccessibility (45.83%), followed by insufficient postoperative care education (31.25%), and systemic challenges in appointment scheduling (23.96%). Postoperative concerns of the caregivers were focused on the development of the child, such as “facial asymmetry,” “hearing problems,” “future treatment plan,” “child’s psychological problems,” etc.

The retrospective cohort comprised 141 mothers with a mean age of 29.58 ± 4.46 years during pregnancy. Most pregnancies reached full term (90.07%), with preterm and post-term births accounting for 7.09 and 2.84%, respectively. Medication use during pregnancy was reported by 75.89% of participants, while gestational diabetes (13.48%) and hypertension (3.55%) constituted the primary complications. There were 3.55% of mothers reported family history of HFM, and 4.96% reported clearly identified environment pollution during pregnancy (Table 5).

The HFM condition was prenatally detected in only 4.97% of cases (2.84% via 2D ultrasound; 2.13% via 3D/4D imaging). Behavioral analysis showed 47.52% of mothers exhibited some degree of overprotection, with 8.51% demonstrating frequent overprotective behaviors. Social awareness concerns were prevalent, with 85.11% expressing sensitivity to others’ reactions toward their child’s condition. Among first-time parents (n = 86, 61.00%), 39.53% expressed no intention to have additional children, while 31.40% reported hesitancy due to concerns about disease recurrence in future offspring (Table 6). Following diagnosis disclosure, most parents experienced negative emotions. Figure 2 presents a word cloud derived from open-ended responses describing caregivers’ emotional states post-diagnosis. Dominant terms like “sadness,” “unacceptable,” and “treatment” dominated the visual field, with smaller but recurrent terms such as “depress,” “guilty” and “uncomfortable” revealing nuanced psychological impacts. This aligns with the 68.1% of mothers reporting depressive symptoms (Table 6), suggesting that emotional distress is both prevalent and multifaceted. Specifically, 50.35% of mothers developed mild depression, 14.18% progressed to moderate depression, and 3.55% developed severe depressive states. Among those experiencing depression (n = 96), 52.08% reported symptom alleviation through personal coping strategies, while 17.71% benefited from the online support group.

The gender distribution of HFM has been a subject of interest and debate in the literature. While most studies report more male cases (9, 10), our study found a higher prevalence among females (53.19%), with a female-to-male ratio of 1.4:1. This finding contrasted with the majority of existing literature but aligns a smaller subset of studies, such as a study conducted in Egypt (2), the USA (11). Moreover, it has been reported that there was an absence of significant gender predominance in cases of HFM (12). The inconsistencies may arise from regional variations, cultural factors, or biological differences influencing gender-specific HFM susceptibility. Families with female HFM patients are more likely to be aware of minor facial asymmetries, which may prompt them to actively participate in various activities and seek treatment methods. In contrast, males may underreport such symptoms. However, it should be noted that the gender distribution in our study may stem from selection bias due to the web-based survey and online recruitment method, so the results might not reflect national trends and should be interpreted cautiously. Future research should probe into these factors to clarify the mechanisms behind HFM’s gender differences.

HFM patients often present with multiple comorbidities of varying severity, leading to diverse clinical manifestations and impacting their quality of life and treatment outcomes. Our study found a high incidence of comorbidities in HFM patients, such as facial cleft (81.6%), micrognathia (52.5%), ear deformities (49.6%), ear tag (48.9%), facial tag (20.6%). Unilateral onset was seen in about 95% of patients, with the right side more often affected than the left, in line with other literature results (6, 13). Heart defects (0.05%), dermoid tumor (0.06%) and spinal deformities (0.02%) were also reported. Furthermore, these defects not only affect appearance but also cause functional problems like chewing, suctioning, pronunciation, and hearing. Our study revealed a high burden of sensory deficits: hearing impairment affected 24.8% of cases, visual abnormalities 14.2%, and concomitant audiovisual impairment 7.1% (n = 10; M:F = 1.5:1). It should be noted that these prevalence rates likely underestimate the true burden due to the caregiver-reported methodology, where unilateral hearing loss may evade detection through contralateral compensation. Future studies should incorporate objective hearing tests to accurately detect hearing loss in children with HFM and thereby enable early diagnosis and intervention, which can significantly enhance management outcomes for affected individuals.

Infant feeding practices play a pivotal role in shaping both physical growth and psychosocial well-being in infants with HFM and the mother. Our findings revealed that 65.25% of infants with HFM received bottle-feeding or mixed feeding (breast milk and formula), a proportion significantly exceeding rates reported in healthy infant populations (14). Studies have shown that bottle feeding can lead to physiological limitations such as low masseter muscle activity and insufficient sucking efficiency in infants, which may compromise nutrient intake efficiency and oral motor developments (15). Conversely, breastfeeding has been linked to enhanced mother-infant bonding, a protective factor against postpartum depression (16). However, infants with HFM often face structural challenges (lateral or both-side facial cleft) that physically impede effective breastfeeding, forcing caregivers to rely on alternative feeding methods. This feeding limitation may exacerbate maternal psychological distress, as mothers reporting difficulties in breastfeeding exhibited heightened depressive symptoms. Therefore, it is possible that the mother has a higher tendency toward depression. These findings underscore a critical interplay between feeding barriers and maternal mental health in HFM populations. Future studies should explore targeted interventions to support breastfeeding feasibility while addressing caregiver mental health needs to mitigate this dual burden.

The etiology of HFM is not fully understood, but increasing research suggests that it may be related to abnormal migration of neural crest cells, vascular abnormalities or hemorrhage, genetic factors, external environmental factors, and maternal factors (3, 8, 17, 18). Our study revealed elevated maternal gestational diabetes mellitus (GDM) prevalence (13.48%) in HFM cohorts compared to the general pregnancy rates (6.5–9.4%). These findings align with prior studies demonstrating that maternal metabolic dysfunction may impair craniofacial development through disrupted nutrient delivery and vascular signaling (3, 19). Additionally, 3.55% cases of gestational hypertension were reported, which may link to more severe placental hemodynamic abnormalities (19, 20). Notably, 75.89% of mothers reported prenatal medication use, raising concerns about iatrogenic contributions, though specific agents remained unspecified in our study (3, 21). Workplace environmental exposure was reported at 4.96%, which is concerning as emerging evidence links air pollutants and endocrine disruptors to branchial arch developmental anomalies (22). Family history rates (3.55%) fell below genetic studies reporting 6% pathogenic mutations, suggesting under ascertainment of mild familial cases or polygenic inheritance patterns. Overall, our findings underscore the multifactorial nature of HFM etiology, where maternal factors, environmental exposures, and genetic predispositions may interact during critical developmental periods to influence craniofacial morphogenesis. Future research with prospective designs and detailed exposure assessments is needed to further clarify these complex relationships and identify specific risk factors.

The caregiving job was highly stressful, especially to the family facing the new born baby with unexpected disease (23, 24). The burden of caregiving for children with HFM disproportionately impacts maternal health and family cohesion, with sociocultural norms exacerbating gender disparities in care responsibilities. Our study revealed that 77.3% of primary caregivers were female, with 83.69% actively employed—a marked disparity compared to U.S. cohorts where 60% of caregivers are women and 75% employed in general (25). This imbalance reflects entrenched cultural expectations in China, where maternal responsibility for pediatric care remains normative. Employed mothers experienced multiple pressures, including caring for their baby, managing workplace responsibilities, and coordinating medical treatments. These demands often disrupted household routines and put strain on marital relationships. Such gender - based family division of labor puts a heavier burden on women, affecting not only the caregivers themselves but also the overall family dynamics and disease management process. These findings call for multifaceted interventions, including employer policies supporting flexible work hours and government-funded programs, to redistribute caregiving burdens and mitigate gender-specific vulnerabilities in HFM-affected family.

The economic burden impacts caregivers of rare disease patients through direct expenses, indirect economic impacts, psychological distress, and diminished quality of life (26). In our study, 33.33% of caregivers reported high financial strain, a proportion similar to that among cancer patient caregivers (27). Conversely, only 7.8% of caregivers indicated no financial strain. The financial strain experienced by caregivers is closely associated with their employment status and education level. Notably, income and education level were positively correlated with economic burden (p < 0.05), while rural residents experienced heavier burdens (r = −0.194, p < 0.05). These trends align with broader socio-economic patterns in the general population. However, HFM families face unique challenges due to the specialized care their children require, such as multiple surgeries, long-term follow-up, and multidisciplinary interventions for comorbidities like facial cleft and micrognathia (28). This specialized care is more complex and costly than routine healthcare, resulting in a more pronounced financial burden compared to families of children without disabilities. Additionally, 21.88% of caregivers reported dissatisfaction with surgical outcomes, primarily due to appearance concerns, and 67.35% of families experienced moderate-to-severe caregiving burdens, with 85.11% of caregivers being sensitive to social reactions. Unlike the general population, the economic burden in HFM families is more strongly influenced by the child’s specific medical needs and their access to specialized care. Access to specialized healthcare is particularly challenging for rural and unemployed caregivers. These individuals often encounter additional barriers, such as limited medical service availability, transportation difficulties, and inadequate insurance coverage, which further intensify their financial burden. These findings underscore the distinctive economic challenges encountered by HFM families, suggesting that while some socio-economic factors may be universal, the intensity and complexity of their economic burden are uniquely pronounced. Future research should explore these differences by comparing the financial and caregiving experiences of HFM families with those of families with children without disabilities or other chronic conditions.

The mental health status of caregivers is a crucial factor affecting the quality of patient care and the psychosocial burden on families. Our study found that the depression rate among mothers of children with HFM was higher than that reported in some studies on mothers of children without disabilities. A meta-analysis of 15,586 women showed that the comorbidity rate of all types of depression within 1 year postpartum was 12.1%, with severe depression accounting for 7.0% (29). Our study revealed that 68.1% of mothers caring for children with HFM reported mild to severe depression, with recurrent negative themes of “cannot accept” and “very sad” dominating their post-diagnosis experiences. These results align with prior evidence indicating that caregivers of children with rare diseases face profound psychological strain, with up to 90% experiencing anxiety, depression, or stress (30). However, our slightly lower depression rates may reflect cultural resilience or methodological differences, while the dual burden of managing complex medical needs—frequent hospital visits, surgeries—while suppressing personal grief left mothers trapped in chronic emotional exhaustion. Caregivers, especially the mother of the HFM child, not only need to manage the psychological and physical needs of the child but also grapple with their own emotional issues, leading to a significant decline in their mental health. Furthermore, the psychological burden of caregivers is closely related to the severity of the patients’ condition, the duration of caregiving, and the lack of social support (31). There are research suggested that a multi-level social support network that combines formal and informal support systems was needed to address issues of reducing caregiver burden, enhancing family resilience, and optimizing long-term disease management through policy and cultural adaptation (32). Thus, future research and policy initiatives should focus on developing comprehensive support strategies to address these challenges and improve outcomes for both caregivers and patients.

Social stigma and lack of support significantly impact how families of children with HFM disclose their child’s condition. Many caregivers have reported that the lack of an effective social support system makes them feel isolated and helpless during the caregiving process. Our study found that only 14.89% of families opted to disclose their child’s illness publicly, and 77.3% of families decided to share the information only with a small circle of individuals. Notably, 7.8% of families preferred to keep the matter entirely confidential. These findings highlight the diverse approaches families take regarding the disclosure of their child’s health condition. Social stigma related to the child and family with rare disease also played an important role in caregivers regarding their caring behavior. In our study, 85.1% of caregivers were sensitive to others’ reactions to children, due to the illness, and about 56% of caregivers has self-reported overprotection behavior. Studies showed that caregivers’ disclosure decisions regarding children’s illness were shaped by multifaceted social and psychological factors, including disclosure motivations, types of stigma, cultural context, and intergenerational differences, highlighting the need for interventions that both reduce stigma and enhance disclosure capabilities (33, 34). Therefore, by equipping caregivers to reclaim their narratives—turning shame into solidarity—we can break the stigma-isolation cycle and build support networks rooted in empathy, not erasure.

The reliance on online support group by families affected by HFM underscores the systemic gaps in rare disease care. With limited physician expertise and public awareness, majority of the families in the WeChat online support group primarily joined to gain disease knowledge (84.4%), seek medical guidance (80.14%), and build patient relationships (76.6%). These results highlight the crucial role of online support group in addressing the unique challenges of rare conditions like HFM, where limited medical expertise and public awareness often lead to inadequate social support. Online platforms serve as vital tools for information sharing, emotional support, and community building (35, 36), despite potential issues such as information inaccuracy and lack of coordination with healthcare systems (37). To ensure the effectiveness and safety of these groups, robust technology and appropriate policies are needed to regulate and integrate them into the broader healthcare landscape. This would help create a more comprehensive support system that combines both online and offline resources.

The rare disease field is marked by diagnostic delays and resource shortages (38). Families of children with HFM encounter multifaceted barriers to healthcare access, extending beyond financial constraints to encompass geographic, social, and systemic factors. Previous study highlights that numerous patients face challenges in accessing timely medical services, primarily due to limited medical resources, the uneven distribution of healthcare facilities, and inadequate awareness of specific diseases (39). Patients with HFM often require multidisciplinary comprehensive treatment, including plastic surgery, otolaryngology, and dentistry, but due to the concentration of these specialized medical services in large cities, rural families experience significant challenges in accessing specialized care (40). In our study, 24.21% of families were from rural areas, and these families demonstrated a 7.07% lower likelihood of undergoing subsequent facial repair procedures compared to urban families (p = 0.43). Though not statistically significant, this trend suggests a potential disparity in healthcare access and utilization between rural and urban settings that warrants further investigation. In addition, patients often encounter the complexity and opacity of the healthcare system when seeking medical assistance, which makes them feel confused and helpless when choosing appropriate medical services. In some cases, the socio-economic status of patients can also affect their ability to access medical care. Research has shown that low-income patients are more likely to face the burden of medical expenses, leading to delayed or abandoned treatment (41).

Caregivers generally report that the quality of healthcare service directly impacts their mental health (42). Due to the age variety in the study group, we only investigated the surgical satisfaction rate related to the transverse cleft repair. We identified multiple unmet medical needs among children who had undergone transverse cleft repair. Transverse cleft repair is the first surgery that infants with HFM may undergo, typically performed after the infant is 3 months old and has reached an appropriate weight. In our study, 95 children (67%) underwent transverse cleft repair, the mean age at surgery was 9.14 ± 8.43 months, which was in the recommended surgical age range of 3 to 12 months (43). However, nearly one-fifth (21.88%) of the family indicated dissatisfaction with the surgery, primarily due to esthetic concerns such as commissural migration, noticeable asymmetry, and lengthy scars. The word cloud analysis (Figure 1) reveals a persistent disconnect between functional and esthetic surgical outcomes, with frequent terms like “asymmetry” and “scar” highlighting unmet cosmetic expectations. This underscores the need for surgical protocols that equally prioritize anatomical correction and esthetic refinement, coupled with improved preoperative counseling to align expectations. However, there is a lack of data to compare the satisfaction rate of the surgery, and the long-term risk of increased scarring and postoperative angular displacement.

In terms of doctor-patient communication, our study revealed that 25% of parents did not receive necessary preoperative explanations and 50% were unaware of the specific surgical methods or techniques, indicate systematic flaws in the current medical information process. Such deficiencies may foster unrealistic parental expectations regarding surgical outcomes, attributable to insufficient comprehension of the procedure. This underscores the need for more balanced and comprehensive communication strategies in clinical practice. Informed consent goes far beyond the act of signing a paper. Beyond explaining surgical necessity, doctors should prioritize comprehensive informed consent discussions, explicitly detailing operative approaches, potential complications, and realistic outcomes (44).

Health education plays an important role in the medical management of patients with HFM, but the current resources for health education are still insufficient. Many patients and their families have limited knowledge about HFM, which directly affects their choice and compliance with treatment plans (39). For instance, 31.25% of families in our study reported inadequate postoperative care education. Patients who undergo transverse cleft repair and lack sufficient knowledge may experience suboptimal outcomes. Additionally, there may be a connection between the need for secondary surgeries and the quality of postoperative care. These findings indicate a need for improvements in the standardization of discharge guidance and its implementation.