TY - JOUR A1 - Rapp, Christina K. A1 - Van Dijck, Ine A1 - Laugwitz, Lucia A1 - Boon, Mieke A1 - Briassoulis, George A1 - Ilia, Stavroula A1 - Kammer, Birgit A1 - Reu, Simone A1 - Hornung, Stefanie A1 - Buchert, Rebecca A1 - Sofan, Linda A1 - Froukh, Tawfiq A1 - Witters, Peter A1 - Rymen, Daisy A1 - Haack, Tobias B. A1 - Proesmans, Marijke A1 - Griese, Matthias T1 - Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy T2 - Clinical Genetics N2 - Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi‐allelic variants in NHL repeat containing protein 2 (NHLRC2, MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD‐EU register database and an in‐house database were searched for patients with NHLRC2 variants and clinical features overlapping FINCA syndrome. Six patients from three families were identified with bi‐allelic variants in NHLRC2. Two of these children died before the age of two while four others survived until childhood. Interstitial lung disease was pronounced in almost all patients during infancy and stabilized over the course of the disease with neurodevelopmental delay (NDD) evolving as the key clinical finding. We expand the phenotype of FINCA syndrome to a multisystem disorder with variable severity. FINCA syndrome should also be considered in patients beyond infancy with NDD and a history of distinct interstitial lung disease. Managing patients in registers for rare diseases helps identifying new diagnostic entities and advancing care for these patients. KW - cerebropulmonary disease KW - childhood interstitial lung disease KW - cholesterol pneumonia KW - FINCA KW - lung fibrosis KW - lipoid pneumonitis KW - multi‐organ disease KW - NHLRC2 Y1 - 2021 UR - https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/26273 UR - https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-262732 VL - 100 IS - 4 SP - 453 EP - 461 ER -