SCALP Dataset

Purpose: To describe the clinical spectrum of ophthalmic and systemic manifestations in children diagnosed with SCALP syndrome.Methods: We reviewed the medical records of 13 children diagnosed with SCALP syndrome between 1 January 2016 and 31 March 2025. Demographic details and clinical findings were analysed.Results: Median age at presentation was 1.2 years (range: 5 days to 10 years). Of the 13 patients, 6 (46.15%) were aged ≤1 year. The cohort comprised 9 males and 4 females. One patient was born to consanguineous parents. Ocular involvement was bilateral in 6 patients and unilateral in 7 Among the cohort, five children had the complete SCALP phenotype, while eight presented with partial features. The most consistent clinical findings were aplasia cutis congenita and limbal dermoids, which were present in all cases except one. Additional ocular features included dermolipomas, upper eyelid coloboma, ptosis, and limbal stem cell deficiency. Systemic manifestations observed included sebaceous naevi, developmental delay, epilepsy with cortical dysplasia and benign bony tumors with upper airway obstruction.Conclusion: SCALP syndrome is a rare neurocutaneous disorder with consistent oculo-cutaneous features and variable neurological involvement. Early recognition and multidisciplinary care are essential. Developing structured diagnostic criteria and exploring genotypic-phenotypic links will be key to improving outcomes.