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GENATLAS PHENOTYPE

last update : 03-06-2009

Symbol	OMD
Location	13q31.3
Name	omodysplasia
Corresponding gene	GPC6
Main clinical features	proxlimally shortened limbs, facial dysmorphism, and severe short stature radiologically, proximal limbs shoretnin, distal tapering of long tubular bones, proximal radioulnar diastasis and antero-lateral dislocation of radial head
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Mechanism(s)

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

Remark(s)

mutation abrogating function of HSPG in the growth plate and cause altered growth-factor signaling, leading to failure of proliferative chondrocytes terminal differentiation and long bone growth retardation (Campos-xavier 2009)