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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 mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)