Understanding low stature: symptoms, causes and living with the disease

What is low-growth?

Low stature, or achondroplasia, is a medical condition in which a person's height is significantly lower than the average for a given age and sex. However, the criteria vary for different populations and age groups. On average, adult women with achondroplasia are assumed to reach 124 cm, and men 131 cm.

In the legal and social context, low-grade disability can be considered a disability, which allows people with the condition to benefit from various forms of support and legal protection. This allows them to access appropriate resources, such as rehabilitation, specialized medical care, workplace adjustments or educational support to help them cope with the challenges of daily life.

Diagnosis of achondroplasia

Achondroplasia in children is often diagnosed at birth or even on ultrasound in the third trimester of pregnancy. Characteristic features, such as short long bones, can be noted during routine prenatal testing. After birth, doctors can confirm the diagnosis based on visible symptoms and genetic testing.

Symptoms of achondroplasia

In the case of achondroplasia, symptoms include not only short stature, but also other physical features, such as joint and spinal deformities, a large head with a protrusion of the frontal bone, a collapsed nasal root, lumbar hyperlordosis, knee myelopathy, limbs that are short and out of proportion to the size of the head, or shortened fingers and toes. There may also be health problems in childhood, such as frequent ear infections, difficulty breathing during sleep (sleep apnea), and curvatures of the spine, which require regular monitoring and medical intervention.

Causes of achondroplasia

Low-growth cartilage is a genetically based cause. Specifically, they result from a mutation in the FGFR3 (fibroblast growth factor receptor 3) gene , which leads to abnormal cartilage development. Most cases of achondroplasia result from mutations that occur spontaneously. Although the disease can also be inherited autosomal dominantly, meaning that if one parent has achondroplasia, there is a 50% chance that the child will also have it.

Treatment options for achondroplasia

Although achondroplasia is an incurable disease, certain measures can be taken to make its symptoms less troublesome.

These include:

? limb lengthening - a surgical procedure that involves the gradual lengthening of bones using special intramedullary nails. The process is lengthy and requires regular medical check-ups, but can significantly improve limb function and the patient's quality of life;

⚫ pharmacotherapy - there are drugs on the market to help lengthen limbs;

? Joint reconstructions - surgical procedures to improve the function of joints that may be deformed or damaged due to low-growth. Joint reconstruction can significantly improve mobility and reduce pain;

⚫ surgical correction of axial deformities of the lower extremities - correction of deformities helps improve gait and reduces the risk of further orthopedic complications.

Achondroplasia requires rehabilitation in addition to treatment. This is crucial for maintaining and improving physical fitness. Rehabilitation programs are tailored to the individual patient's needs and may include exercises to strengthen muscles, improve flexibility, and training to improve coordination and balance. Rehabilitation also helps manage pain and prevent the development of further health problems associated with low back. With comprehensive medical care, including both treatment and rehabilitation, people with achondroplasia can lead active and full lives.

Living with low-grade

Living with short stature can affect many aspects of daily life, from adapting to household tasks to coping at school or at work. Children may face bullying and teasing from peers, and may struggle with the frustration of having difficulty completing tasks that are easier for other children. People with achondroplasia often face difficulties in daily functioning due to physical limitations and architectural barriers. In daily life , they may require adjustments to their living space, such as the installation of low-lying shelves, adjustable kitchen countertops, or steps to facilitate access to higher places. Specialized tools and devices can help with daily activities, such as preparing meals or using the bathroom.

Despite physical limitations, many people with achondroplasia have active social lives. They participate in a variety of events, social gatherings and recreational activities. For many, building strong relationships with family and friends is key, providing emotional support and helping them cope with the challenges of daily life. Social acceptance and support are extremely important for people with achondroplasia, as they help them feel understood and fully accepted.

Paley European Institute experts on Question for Breakfast program

Low stature is a condition that affects many aspects of life. However, although it comes with challenges, many people with low stature live full and satisfying lives. This is the case for Marcelina, who appeared on the TV show Question for Breakfast in June 2024, together with her mother and Dr. Jaroslaw Michal Deszczynski, MD. During this appearance, Marcelina talked about her daily life with achondroplasia, the challenges she faces and the support she receives from her family and specialists.

Marcelina, thanks to her determination and the support of her loved ones, is trying not to let low stature limit her life. She talked about the medical procedures she has undergone, such as limb lengthening, which have greatly improved her quality of life. Thanks to the therapies and treatments, Marcelina can enjoy greater freedom of movement and less pain.

Dr. Deszczynski, a specialist in pediatric orthopedics, explained in the program what the different treatments for people with achondroplasia consist of. He also stressed the importance of helping patients by creating individualized treatment plans. With this approach, we at the Paley European Institute are helping people with achondroplasia.

Marcelina's example shows how different approaches to treating achondroplasia can be. At Paley European Institute, we offer bone lengthening with special intramedullary nails, while Marcelina wore external braces for a year, which are much less comfortable. Therefore, it is worth considering the patient's quality of life when choosing a treatment method. Bone lengthening with intramedullary nails reduces recovery time and pain and discomfort. Patients are able to return to daily activities faster, which significantly improves their well-being and quality of life. External braces, while effective, are often associated with greater movement limitations, risk of infection and longer healing time.