Other Names for this Disease
- Achondroplastic dwarfism
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Your QuestionCan a couple have a child with achondroplasia if one of the parents have the syndrome?
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Yes. A couple could have a child with achondroplasia if one of the parents have the syndrome. Achondroplasia is inherited in an autosomal dominant fashion. If a condition is autosomal dominant, it means you only need to get the mutated copy of the gene from one parent in order to inherit the condition or trait. As a result when a person with achondroplasia has a child, there is a 50% chance that their child will inherit the condition.
Last updated: 1/26/2016
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion.
Last updated: 11/12/2015
- What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. January 25, 2016; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns.
- Achondroplasia. Genetics Home Reference. May 2012; http://ghr.nlm.nih.gov/condition=achondroplasia.
- Pauli RM. Achondroplasia. GeneReviews. February 2012; http://www.ncbi.nlm.nih.gov/books/NBK1152/.