aplasia of the lacrimal and salivary glands(English)

• a rare autosomal dominant congenital anomaly (OMIM 180920) with variable expressivity, characterized by aplasia, atresia or hypoplasia of the lacrimal and major salivary systems. Affected individuals present with irritable eyes and dryness of the mouth. Mutations in FGF10 are described, also in the lacrimo-auriculo-dento-digital syndrome which are overlapping clinical entities. May be associated with atresia of the nasolacrimal duct and absence of lacrimal puncta
• LADD
• Congenital disorders, Gland(ular), Ophthalmology
• https://doi.org…sj.ejhg.5201762