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Clinical Spectrum, Morphometrics, and Management of Perineal Cleft in Female Children
M A Baky Fahmy1, Ilhama Jafarli2, Ahmed Elkhouly3
1Emeritus professor of pediatric surgery, Al-Azhar University, Egypt.
Insights
Perineal cleft (PC) is a rare congenital anomaly in females. Most cases resolve spontaneously, but associated anorectal anomalies may require intervention, emphasizing the need for increased awareness.
Area of Science:
- Pediatric Surgery
- Congenital Anomalies
- Female Genitourinary System
Background:
- Perineal cleft (PC), or perineal groove, is a rare congenital anomaly of the female perineum.
- It presents as a midline mucosal defect, often underrecognized and potentially linked to other anogenital malformations.
Purpose of the Study:
- To investigate the prevalence, clinical spectrum, and associated anomalies of PC in female pediatric patients.
- To analyze morphometric characteristics and evaluate management outcomes for PC.
Main Methods:
- A prospective cross-sectional study of 4,100 female patients aged 1 day to 12 years.
- Detailed clinical assessment, anogenital distance (AGD) measurement, and histopathological evaluation were performed.
- Examination under general anesthesia was conducted in selected cases.
Main Results:
- PC was diagnosed in approximately 1.27% of patients (52 cases).
- Associated findings included hymenal lesions and anorectal anomalies; AGD was significantly shorter in affected patients.
- Most isolated defects resolved spontaneously; 15 patients required surgery, mainly for anorectal malformations.
Conclusions:
- Perineal cleft is an uncommon congenital anomaly often associated with hymenal and anorectal issues.
- The majority of cases are asymptomatic and resolve spontaneously, supporting conservative management.
- Increased awareness is crucial to prevent misdiagnosis and unnecessary procedures.
Background:
Perineal cleft (PC), also known as perineal groove, is a rare congenital anomaly of the female perineum characterized by a midline mucosal defect of variable extent. Despite its distinctive morphology, the condition remains underrecognized and may be associated with other anogenital malformations.
Aim:
To determine the prevalence, clinical spectrum, associated anomalies, morphometric characteristics, and management outcomes of perineal cleft in female neonates, infants, and young children.
Patients And Methods:
Between 2018 and 2025, a prospective cross-sectional evaluation of the genital and perineal regions was conducted in 4.100 female patients aged 1 day to 12 years. Suspected cases of perineal cleft underwent detailed clinical assessment for associated anomalies. Anogenital distance (AGD) was measured using a digital caliper, and selected patients underwent examination under general anesthesia. Histopathological evaluation was performed in 35 cases.
Results:
Perineal cleft was diagnosed in 52 patients (≈1.27% of the cohort). Complete defects extending to the anal verge were identified in 19 cases, while the remainder exhibited incomplete forms. Associated findings included vulvar edema, hymenal tags or polyps, and anorectal anomalies, particularly abnormal anal positioning. AGD was significantly shorter in affected patients compared with controls (P < 0.001). Histopathology demonstrated a non-keratinized columnar epithelial lining in most biopsied lesions. Surgical intervention was required in 15 patients, primarily those with associated anorectal malformations, whereas the majority of isolated defects resolved spontaneously with conservative management.
Conclusion:
Perineal cleft is an uncommon congenital anomaly frequently coexists with hymenal lesions and anorectal anomalies. Most cases are asymptomatic and undergo spontaneous epithelialization during early childhood, supporting a conservative management approach. Increased awareness is essential to avoid misdiagnosis and unnecessary invasive procedures.
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