Camptodactyly and Early‐Onset Scoliosis in Snijders Blok–Campeau Syndrome

Snijders Blok–Campeau syndrome is caused by a heterozygous CHD3 pathogenic variant, and characterized by features including macrocephaly, speech delay, hypotonia, and joint laxity. In the hereby‐presented case, a Japanese girl with Snijders Blok–Campeau syndrome displayed bilateral middle finger camptodactyly and early‐onset scoliosis, beyond the characteristic symptoms such as intellectual disability, facial abnormalities, macrocephaly, and hypotonia due to a recurrent CHD3 pathogenic variant. This case expands our knowledge of the phenotypic spectrum of Snijders Blok–Campeau syndrome.