Congenital absence of salivary gland

Autosomal dominant aplasia of lacrimal and salivary glands is a rare condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome (270150), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia. Both sporadic and familial cases of ALSG have been described (summary by Entesarian et al., 2005).

OMIM