Chung-Jansen Syndrome with obesity

Chung-Jansen Syndrome is a recently identified obesity syndrome, characteristic clinical features of which are global developmental delay, intellectual disability, obesity and dysmorphism (DIDOD). We present a child with the syndrome who also had hypothyroidism and renal involvement in form of small kidneys on one side. The next generation sequencing done in the child showed a nonsense variant in the PHIP gene leading to premature chain termination in the protein on bioinformatic analysis.