Introduction. Craniectodermal dysplasia is a rare autosomal-recessive ciliopathy associated with skeletal defects, dysmorphic facial features, growth deficiency, and ectodermal defects. Material and methods. A 3-year-old female patient was included in the study. Results. The girl was admitted for frequent infections, recurrent episodes of fever, gastrointestinal problems (feeding difficulties, recurrent vomiting, constipation), and marked arthralgias associated with muscle weakness and morning stiffness. Detailed history revealed frequent, but uncomplicated URTI. A regular follow-up didn’t reveal any data to suspect an autoinflammatory condition. Clinical examination revealed a child with severe growth deficiency and dysmorphic features, presenting with the following stigma: prominent forehead, dolichocephaly, sagittal craniosynostosis, high anterior hairline, hypertelorism, low set ears, skin laxity, brachydactylia, abnormal nails, and teeth. Also, the patient had neuromuscular, but no cognitive or language delay. The physician’s attention was caught by the abnormal nails, brittle hair, and small, dysmorphic teeth. Another unusual finding was the presence of persistently increased levels of ALT, AST, and GGT levels, impaired phosphoruscalcium metabolism (low Ca and vitamin D3, high P levels), and AMA2-positive antibodies (revealed at age of 2). Taking into account presence the of autoimmune hepatitis, APCED was considered. Nevertheless, clinical laboratory data were not consistent with the diagnosis. The immunological assay revealed a low absolute CD19 fraction and relatively unchanged immunoglobulin levels. Karyotype, genetic metabolic panel, SNP microarray, and whole genome sequencing were negative. Cranioectodermal dysplasia was suspected based on suggestive findings. Conclusion. Frequent infections may hide a complex syndrome, as well as a rare disease. Such patients require a multidisciplinary approach for timely and correct diagnosis.