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.

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