Defects in FGF10 are the cause of autosomal dominant aplasia of lacrimal and salivary glands (ALSG) [MIM:180920].
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. The disorder is characterized by irritable
eyes, recurrent eye infections, epiphora (constant tearing) and xerostomia (dryness of the mouth), which increases
the risk of dental erosion, dental caries, periodontal disease and oral infections.
Defects in FGF10 are a cause of lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]; also known as
Levy-Hollister syndrome. LADDS is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal
development of two or more ectodermal structures. LADDS is an autosomal dominant syndrome characterized by
aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel
hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations
of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.