What is achondroplasia, a stigmatized genetic disorder at the center of the Lamine Yamal controversy?

The Association of People with Achondroplasia and Other Skeletal Dysplasias with Dwarfism has reported Lamine Yamal for hiring people with dwarfism for his birthday celebration, according to an official statement posted on the social network X.

In reality, dwarfism and achondroplasia are two conditions that have traditionally been shrouded in a painful stigma , which behaviors like Lamine Yamal's (if proven true) only perpetuate.

What is achondroplasia and why does it occur?

Achondroplasia is a genetic bone growth disorder that causes the most common type of dwarfism. It falls within the group of diseases called chondrodystrophies or osteochondrodysplasias, and, as detailed by the U.S. National Library of Medicine'sMedlinePlus medical information portal, causes problems in the development of bone, cartilage, and connective tissue.

Specifically, achondroplasia arises from a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene . This prevents bone growth and primarily affects the long bones of the arms and legs. Therefore, people with achondroplasia are typically short, with an average height of around 1.40 meters.

This mutation is inherited as an autosomal dominant trait , meaning that if a child inherits it from one of their parents, they will develop the disorder. The chances of this occurring are 50% if only one parent has it, while they rise to 75% if both parents have it. However, the majority of cases (80%) are spontaneous mutations, in which neither parent had the disease.

Symptoms and signs

Dwarfism is characterized by a series of physical traits that appear during a child's development, including:

It should be noted that achondroplasia does not imply any type of intellectual disability , and that most people with the disorder lead normal lives.

During pregnancy, achondroplasia can be detected through certain tests, such as a prenatal ultrasound, which can show excessive amniotic fluid. Once the baby is born, an examination of the baby may reveal an enlarged head, and an X-ray can help diagnose the disorder.

During growth, children with achondroplasia need ongoing monitoring to identify potential health problems that may arise.

Can it be treated?

Currently, there is no specific treatment for achondroplasia . However, the health complications that may arise from the disease must be addressed.

These complications may include obstructive sleep apnea , recurrent ear infections, obesity, kyphosis (a curvature of the upper spine), hydrocephalus, lordosis (a curvature of the lower back), walking problems due to bowed legs, and spinal stenosis (compression of the spinal cord at the base of the skull).

Currently, there is also a drug, vorosotide , which, when administered to children over five years of age, can slightly improve bone growth.

References

MedlinePlus. Achondroplasia. Accessed online at https://medlineplus.gov/spanish/ency/article/001577.htm on July 14, 2025.

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