Chronic interstitial lung disease (ILD) in infants and children is a challenging diagnostic clinical problem. There are many unresolved and controversial issues in the diagnosis of this heterogeneous group of uncommon disorders in children. Diagnosis requires a high index of suspicion as the initial clinical manifestations are subtle, highly variable and non-specific. There is no consensus for the clinical diagnostic criteria of paediatric ILD. The spectrum of clinical findings is highly variable. The diagnostic evaluation of a child with suspected ILD includes a comprehensive history, physical examination, oxygen saturation (at rest, during exercise or during feeding), a plain chest x ray and a high-resolution thin-cut tomography scan of the chest. Pulmonary function studies can be useful in older children; these typically show a restrictive pattern with a decreased forced expiratory volume in 1 s (FEV(1)), forced vital capacity (FVC) and total lung capacity, but normal FEV(1)/FVC. A systematic approach to diagnosis is useful in the evaluation of an infant or child with suspected chronic ILD. Due to the rarity of most of these disorders, multi-centre collaboration is needed to improve our understanding of this orphan lung disease.