Prenatal Diagnosis of a Splice‐Site Variant in UBA2 : Expanding the Clinical Spectrum of UBA2 ‐Related Disease

We report a case of a paternally inherited novel splice site variant in a patient prenatally diagnosed with Aplasia Cutis Congenita and Ectrodactyly (ACCES) syndrome with isolated split hand and foot malformations confirmed at birth. Intrafamilial variability has been previously reported in UBA2‐related syndromes and malformations. We suggest that the rising number of reported UBA2 variants associated with isolated split hand/ft malformations without a full ACCES phenotype highlights the functional importance of UBA2 in distal limb morphogenesis.