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GENATLAS PHENOTYPE

last update : 04-02-2012

Symbol	SOST2
Location	11p11.2
Name	sclerosteosis-2
Corresponding gene	LRP4
Main clinical features	facial nerve palsy,, mild frontal bossing, midface hypoplasia, dental malocclusion, and marked prognathism associated with syndactyly of fingers and toes observed at birth radiographic findings included a widened and uniformly sclerotic calvarium with a very dense base, prominent vascular markings, expanded sella turcica, enlarged frontal sinuses, enlarged sclerotic mandible, widened and dense clavicles and ribs, and sclerotic vertebral endplates and pedicles
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

Remark(s)

. identified LRP4 mutations might be disease-causing by hindering sclerostin function as a negative bone formation regulator ( PMID: 21471202))