Case 2 is a 9-year-old girl with SNAH and craniosynostosis from a novel heterozygous TSHR variant c.1897G >C; p.D633H identified in the neonatal period.<h4>Conclusion</h4>The severe hyperthyroidism and complex course seen in these individuals contrast with previously reported cases. The gene discussed is TSHR; the disease is craniosynostosis.