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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
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 180920
References
OMIM :accession 180920