aplasia of lacrimal and salivary glands
aplasia of lacrimal and salivary glands
An autosomal dominant condition (OMIM:180920) with variable expression, which is characterised by aplasia or hypoplasia of the lacrimal, parotid, submandibular and sublingual glands and absence of the lacrimal puncta.Clinical findings
Recurrent ocular inflammation and infections; constant tearing and dryness of the mouth, increasing the risk of dental erosion, dental caries, periodontal disease and oral infections.
Molecular pathology
Defects in FGF10 on chromosome 5p13-p12, which encodes fibroblast growth factor 10, are linked to aplasia of lacrimal and salivary glands.