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GENATLAS PHENOTYPE

last update : 5/09/2006

Symbol	LADD2
Location	4p16.3
Name	lacrimoauriculodentodigital syndrome 2
Other name(s)	Levy-Hollister syndrome
Corresponding gene	FGFR3
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	in the loop connecting the beta 3 sheet to the alpha C helix of the tyrosine kinase core

Remark(s)