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GENATLAS PHENOTYPE

last update : 03-04-2009

Symbol	DDRD
Location	1p36.12
Name	dyssegmental dysplasia, Rolland-Desbuquois type
Corresponding gene	HSPG2
Main clinical features	dyssegmental dysplasia, mild form skeletal manifestations included severe micromelia, dolichocephaly, flat face, and cleft palate. The hands appeared normal. X-rays revealed short, broad long bones with flared metaphyses, delayed epiphyseal ossification, and flat vertebral bodies. Coronal lumbar cleft was also observed
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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