Fibrosis, neurodegeneration, and cerebral angiomatosis

Definition

Any syndromic disease caused by a mutation in the NHLRC2 gene and is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction.

Also known as fibrosis-neurodegeneration-cerebral angiomatosis syndrome, FINCA, FINCA syndrome — per MONDO

Also identified as

• OMIM 618278 per MONDO
• Orphanet 621758 per MONDO
• UMLS C4748939 per MONDO