Dwarfism is characterized by a growth failure. It can have different causes but the most common is achondroplasia, a genetic disease that results in abnormal bone development.

Definition of dwarfism

Dwarfism is a growth defect which can have a genetic origin but can also be the consequence of various disorders (bone, metabolic, nutritional, hormonal, etc.). It can manifest itself identically throughout the body, or be different depending on the limbs. In this second case, some limbs appear short compared to the rest of the body.

Causes of dwarfism

Several possible causes have been identified:

• achondroplasia, a genetic disease that results in abnormal bone development and is the most common cause of dwarfism;
• hypochondroplasia, a disease which is similar to achondroplasia but has less marked consequences on the face;
• multiple epiphyseal dysplasia which is damage to the cartilage at the ends of long bones;
• osteogenesis imperfecta, a genetic disease causing brittle bones;
• the small constitutional stature which has a hereditary origin;
• Turner syndrome, a genetic disorder characterized by the presence of a single X chromosome in women and which always results in short stature;
• growth hormone deficiency;
• scoliosis which is a deformation of the spine that can lead to short stature;
• etc. 

Diagnosis of dwarfism

The growth failure is noted during childhood. A clinical examination including an analysis of the individual and family medical history is carried out. Additional examinations may also be performed to confirm the diagnosis and identify the origin of the dwarfism. Healthcare professionals can rely on the results of a genetic test, medical imaging tests or a blood test, for example.

Achondroplasia is the most common cause of dwarfism. This genetic disease affects on average one child in 15 births.

• Small stature: Those affected are smaller than people of the same age, gender and ethnicity. When we talk about dwarfism, the maximum height is generally 1m.
• Pain: Back, lower back and neck pain may occur in some cases. These are common when the growth of the spine is affected.
• Lower Limb Disorders: Tingling, tingling or weakness in the lower limbs may be observed. These disorders are common in cases of dwarfism due to achondroplasia.
• Respiratory and Cardiac Disorders: The functioning of the cardiovascular and pulmonary systems may be affected by the deformity of the spine, especially in the case of scoliosis.

After the diagnosis of dwarfism in children, regular medical surveillance is set up by the general practitioner or the pediatrician. The follow-up may also involve other specialists depending on the origin of the dwarfism.

In some cases, treatment can be put in place. It can be based on:

• hormonal treatment to correct a deficit;
• nutritional correction in case of malnutrition;
• surgical management;
• orthopedic care;
• physiotherapy sessions;
• etc.

Growth problems in children can have many different causes. Among these, nutritional deficiencies can be avoided by eating a healthy, balanced diet that meets the needs of the child. In case of doubt, medical advice is recommended.

For the genetic causes of dwarfism, an early prenatal diagnosis may allow better management.