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


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