Table 2.

Key teaching points

1.When an individual has vesicoureteric reflux (VUR) and/or dysfunctional urinary voiding plus an abnormal smile, clinicians should consider urofacial syndrome (UFS) and seek biallelic variants in HPSE2 or LRIG2.

2.When a patient has an apparent UFS phenotype plus features such as developmental delay and broader dysmorphology, clinicians should consider hypotonia, ataxia, and developmental delay syndrome (HADDS) syndrome and seek variants in EBF3.

3.UFS is an autosomal recessive disease, in contrast to HADDS, which is autosomal dominant.