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
- Microcephalic osteodysplastic primordial dwarfism types I and III
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MOPD1 is thought to be inherited in an autosomal recessive manner. 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