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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Microcephalic osteodysplastic primordial dwarfism type 1


Other Names for this Disease
  • Brachymelic primordial dwarfism
  • Cephaloskeletal dysplasia
  • Low-birth-weight dwarfism with skeletal dysplasia
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3
  • MOPD 1
More Names
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Inheritance


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How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited?

MOPD1 is thought to be inherited in an autosomal recessive manner.[1] This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The parents who each carry one abnormal copy of the gene are referred to as carriers; carriers typically do not show signs or symptoms of an autosomal recessive condition. When two carriers have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 11/11/2011

References
  1. Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An atlas of genetic disorders of the skeletal development. 2nd ed. Oxford, NY: Oxford University Press; 2002;