Achondroplasia facts for kids

Achondroplasia is a common type of Dwarfism. It affects how bones grow, making them shorter than usual. This condition is part of a group called osteochondrodysplasias, which means "bone and cartilage growth problems." It often makes the bones in the arms (like the humerus) and legs (like the femur) shorter.

How Achondroplasia Happens

Achondroplasia is caused by a change in a person's DNA. This change affects a specific gene called fibroblast growth factor receptor 3. This gene is important for making cartilage, which is a soft tissue that helps bones grow. When this gene changes, it affects how cartilage turns into bone, leading to shorter bones.

Genes and Inheritance

This condition is caused by a dominant allele. This means that if a parent has the gene, there is a 50% chance their child will also have achondroplasia.

If both parents have achondroplasia, the chances are higher. There is a 75% chance their child will have the condition. In a small number of cases (about 25%), if both parents have the gene, the condition can be very serious. Babies with this severe form may have great difficulty surviving for long.

Sometimes, achondroplasia can happen even if neither parent has the gene. This is called a new or "spontaneous" mutation. It means the gene change happens for the first time in that person.

Future Treatments

Because scientists now know which part of the DNA causes achondroplasia, there is hope. Researchers are working to develop new treatments. These treatments could help people with achondroplasia in the future.

Images for kids

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  Detail of Las Meninas by Diego Velázquez (1656), showing Maribarbola and Nicolasito Pertusato (right), achondroplastic dwarfs in the entourage of Infanta Margarita

See also

In Spanish: Acondroplasia para niños