Lacrimo-Auriculo-Dento-Digitial (LADD) Syndrome is a rare disorder involving a number of structures affected by mutations in some of the fibroblast growth factor (FGF) genes.
Gene affected:
(1) FGF10 (fibroblast growth factor 10) at chromosome 5p13-p12
(2) FGFR2 (FGF receptor 2) at chromosome 10q26
(3) FGFR3 (FGF receptor 3) at chromosome 4p16.3
Inheritance: autosomal dominant or sporadic
Clinical findings:
(1) aplasia, hypoplasia or atresia of lacrimal and salivary glands
(2) cup-shaped ears
(3) hearing loss
(4) dental anomalies
(5) digital anomalies on hands and feet
(6) variable kidney anomalies
To read more or access our algorithms and calculators, please log in or register.
