autosomal dominant aplasia of lacrimal & salivary glands (ALSG)

Genetics

• autosomal dominant
• associated with defects in FGF10

Clinical manifestations

• variable expressivity
• affected individuals may have aplasia or hypoplasia of the lacrimal gland, parotid gland, submandibular gland & sublingual glands & absence of the lacrimal puncta
• irritable eyes, recurrent eye infections, epiphora & xerostomia

Complications

• increased risk of dental erosion, dental caries, periodontal disease & oral infections

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/180920