Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
David Perlstein, MD, MBA, FAAP
Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
In this Article
- Achondroplasia facts
- What is achondroplasia?
- What are the characteristics of achondroplasia?
- How is achondroplasia diagnosed?
- What can be done for patients with achondroplasia?
- How is achondroplasia inherited?
- What if someone with achondroplasia has children?
- What if two people with achondroplasia have children?
- What gene causes achondroplasia?
How is achondroplasia inherited?
Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene (mutation) is required to cause achondroplasia. The gene for achondroplasia is fully penetrant, meaning that everyone who possesses it has achondroplasia. No one with the gene escapes achondroplasia. However, there is some variation in expression of the gene, meaning that children with achondroplasia are not carbon copies of each other, although they may look alike to the untutored eye.
In only about an eighth of cases is the gene inherited from a parent who has achondroplasia. Rather, about seven-eighths of cases are due to a new mutation (a new change in the gene). This means that most cases of achondroplasia occur sporadically (out of the blue) and are the result of a new mutation in a sperm or ovum of one of the normal- appearing parents. The chance of a new mutation rises with the age of the father. As early as 1912 it was noted that sporadic (new) cases were more often last-born than first-born children. This fits with the fact that the chance of an achondroplastic birth has been shown to increase with paternal age (age of the father).
What if someone with achondroplasia has children?
Although most children with achondroplasia do not have an achondroplastic parent but have a new mutant gene for achondroplasia, they can still transmit the gene to their children, and the risk for passing that gene down to a child is 50% in each pregnancy.
What if two people with achondroplasia have children?
People with achondroplasia sometimes have children together. If so, each parent has a 50:50 chance of passing on the gene. Thus, with each conception, there is a 25% chance for an average-size child, a 50% chance for a child (like them) with achondroplasia and a 25% chance for a conception with two achondroplasia genes. The combined presence of two genes for achondroplasia (called homozygous achondroplasia) causes a grievous skeletal disorder that leads to early death from breathing failure due to constriction by a tiny chest cage and neurologic problems from hydrocephalus.
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