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FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome 

FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome
Chapter:
FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome
Author(s):

Jeff M. Milunsky

DOI:
10.1093/med/9780199934522.003.0062
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date: 25 February 2021

Lacrimo-Auriculo-Dento-Digital [LADD (MIM 149370)] syndrome is an autosomal dominant multiple congenital anomaly disorder characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. This disorder is also known as the Levy–Hollister syndrome from the original descriptions (Levy, 1967; Hollister et al., 1973). Aplasia or hypoplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] is also a rare autosomal dominant disorder characterized by xerophthalmia and xerostomia, which lead to conjunctival scarring, severe dental caries, dental erosion, and periodontal disease. LADD syndrome and ALSG appear to represent variable presentations of the same clinical spectrum caused by FGF10 mutations. In addition to FGF10 mutations, LADD syndrome is a genetically heterogeneous disorder with identified mutations in FGFR2 and FGFR3, the genes for binding receptors of FGF10. Hence, LADD syndrome results from the mutations affecting the FGF10-FGFR2 signaling pathway (Shams et al., 2007).

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