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References OMIM Gene GeneReviews HGMD HGNC
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