Wide variability in clinical expression.
Persistent dry mouth because of decreased salivation caused by aplasia or
hypoplasia of the salivary glands. Other features include severe dental caries; nasolacrimal duct
obstruction with chronic epiphora and dacryocystitis; absent lacrimal gland;
peg-shaped teeth with enamel hypoplasia; cup-shaped ear(s) and sometimes
hearing loss; preaxial digital anomalies (triphalangeal thumb,
digitalization of thumb, syndactyly, radial hypoplasia) and clinodactyly of
the fifth digit. Other features less commonly associated include congenital
renal disease (bilateral renal agenesis, cystic dysplastic kidneys) and
dysmorphic facies with retrognathia, high forehead, and deep metopic
fissure. One patient was reported to have a complex cardiopulmonary
malformation: right diaphragmatic palsy (which was present in asymptomatic
form in the mother also), hypoplasia of the left lung vasculature without
bronchial anomalies, mild hypoplasia of the left pulmonary artery, and, on
echocardiography, aneurysm of the interventricular septum.