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GENATLAS PHENOTYPE

last update : 10-11-2015

Symbol	OIXVII
Location	5q33.1
Name	Osteogenesis imperfecta, type XVII
Corresponding gene	SPARC
Main clinical features	osteogenesis moderately deforming and with moderate to severe bone fragility of long bones and vertebral bodies, multiple vertebral compression fractures of the thoracic spine and kyphoscoliosis absence of blue sclera, absence of dentinogenesis imperfecta, propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocation, and a subphyseal metaphyseal radiodense line
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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