Can Acquired Achondroplasia Occur? Risks for Newborns Explained

Is there such a condition as acquired chondrodysplasia?

A friend of mine seems to have what is known as achondroplasia, but I heard that it is acquired later in life.
Is that possible? Now he has had a baby, and I wonder what the likelihood is that this baby will have the condition.
Also, his sisters are all normal; will they have a chance of having children with achondroplasia in the future?

Chen, 20~29 year old female. Ask Date: 2002/04/26

Dr. Peng Yiguo reply Obstetrics and Gynecology

Achondroplasia is a hereditary congenital skeletal dysplasia that is inherited in an autosomal dominant manner.
However, over 80% of cases are due to mutations, which are associated with advanced paternal age.
The incidence rate is approximately 4 to 14 per 100,000 births.
The fundamental cause of achondroplasia is unknown, but research indicates that it is due to a reduction in the quantity of endochondral ossification, which affects the growth rate of cartilage.
This leads to impaired development of the long bones in the limbs, resulting in affected longitudinal growth of long bones.
However, the growth of the periosteum, which is responsible for the transverse growth of bones, proceeds normally.
Consequently, long bones become short and thick, while the length of the spine remains relatively normal, resulting in a dwarfism phenotype.
The average birth length for affected boys and girls is 47.7 cm and 47.2 cm, respectively, while the average final height for affected males and females is 130 cm and 123 cm, respectively.
It is possible for normally developed parents to have an affected child, although the probability is lower.
This is related to factors such as the age of the parents at conception, potential environmental pollutants, or genetic mutations.

Reply Date: 2002/04/26

More Info

Acquired achondroplasia is a rare condition that is not typically recognized in the same way as genetic forms of achondroplasia, which is primarily caused by mutations in the FGFR3 gene. Achondroplasia is a form of skeletal dysplasia characterized by disproportionate short stature and is inherited in an autosomal dominant manner. The majority of cases arise from new mutations, meaning that most individuals with achondroplasia have parents of average height, and the condition occurs sporadically.

In the case of your friend, if he has been diagnosed with a form of achondroplasia that is considered "acquired," it is essential to clarify what that means. Acquired conditions typically refer to those that develop due to environmental factors, trauma, or other non-genetic influences. However, true achondroplasia is not known to be acquired in this manner. It is crucial for your friend to consult with a geneticist or a specialist in skeletal dysplasias to understand the specifics of his condition.

Regarding the risk of having a child with achondroplasia, if your friend has a confirmed diagnosis of achondroplasia (even if it is labeled as acquired), there is still a possibility that his child could inherit the condition. If his achondroplasia is indeed genetic, the risk of passing it on to his offspring would be approximately 50% for each pregnancy, given the autosomal dominant inheritance pattern. This means that if one parent has the condition, there is a 50% chance that any child they have will also have achondroplasia.

As for the siblings of your friend, if they are of average height and do not exhibit any signs of skeletal dysplasia, the likelihood of them having a child with achondroplasia is significantly lower. However, if there is any uncertainty regarding their genetic status, it may be beneficial for them to undergo genetic counseling. This can help assess their risk of having children with achondroplasia or other genetic conditions.

In summary, while true acquired achondroplasia is not recognized in the medical literature, understanding the genetic basis of your friend's condition is crucial. If he has a genetic form of achondroplasia, there is a risk of passing it on to his children. For his siblings, if they are unaffected, the risk is considerably lower, but genetic counseling can provide clarity and guidance for family planning. It is always advisable for individuals with a family history of genetic conditions to seek professional genetic counseling to understand their risks and options better.

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