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GENATLAS PHENOTYPE
last update : 06-03-2019
Symbol LADD3
Location 5p12
Name lacrimo-auriculo-dento-digital syndrome 3
Corresponding gene FGF10
Main clinical features aplasia or hypoplasia of the puncta with obstruction of the nasal lacrimal ducts, auricular cup-shaped pinnas with mixed hearing deficit, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia, fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and syndactyly
Genetic determination autosomal dominant
Function/system disorder ear
eye
osteo-articular
Type disease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function  
Remark(s)