Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
LADD syndrome can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2; 176943) and 3 (FGFR3; 134934). Furthermore, the LADD syndrome has been found in association with a mutation in the FGF10 gene (602115), which encodes an FGFR ligand.
