Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome

Am J Med Genet A. 2021 Jul 8. doi: 10.1002/ajmg.a.62419. Online ahead of print.


We present an 18-month-old male with Tetralogy of Fallot, retrognathia, short stature, global developmental delay, and dysmorphic features who was found to have dual diagnoses of both Williams syndrome and 22q11.2 deletion syndrome (22q11.2DS). To our knowledge, this is the second case of such a co-occurrence documented in the medical literature. Our patient presents with a blended physical phenotype of these two conditions and a behavioral phenotype that is distinct from what is typically observed in either disorder alone. We compare our patient's phenotype to the previously reported case and to the typical phenotypes for each individual condition. Additionally, we discuss why the occurrence of these two disorders together seems to be so rare, and the benefit of a genetics evaluation to an inpatient service team and the patient.

Keywords: 22q11.2 deletion syndrome; DiGeorge syndrome; Williams syndrome; Williams-Beuren syndrome.

Publication types

  • Case Reports