The craniosynostosis and dental abnormalities seen in the patient with homozygous GP130 p.R281Q are reminiscent of the phenotype of patients with craniosynostosis and dental anomalies caused by IL11RA mutations.5,14–18,29 In light of the relatively high minor allele frequency of 0.0016 in the South Asian population and the incomplete penetrance in this consanguineous family, a causal relationship between the variant and the phenotype cannot be established with a single case. The gene discussed is IL6ST; the disease is craniosynostosis.