Which are the symptoms of Léri-weill Dyschondrosteosis?

Symptoms of Léri-Weill Dyschondrosteosis

Léri-Weill Dyschondrosteosis (LWD) is a rare genetic disorder that affects bone growth and development. It primarily affects the bones of the forearm and lower leg, leading to certain characteristic physical features and skeletal abnormalities. The symptoms of Léri-Weill Dyschondrosteosis can vary in severity and may become more noticeable as a child grows.

Short stature: One of the most prominent features of LWD is short stature. Individuals with LWD tend to have a significantly shorter height compared to their peers. This short stature is primarily due to the abnormal growth of the forearm bones, which results in shorter arms and legs.

Bow-leggedness: Another common symptom of LWD is the presence of bow-leggedness, medically known as genu varum. This means that the legs curve outward, causing the knees to be further apart when standing or walking. Bow-leggedness can affect a person's gait and may lead to difficulties with balance and stability.

Wrist deformities: LWD often causes specific deformities in the wrists, known as Madelung deformity. This deformity is characterized by abnormal growth and angulation of the radius bone in the forearm, leading to a distinctive appearance of the wrist. The wrist may appear tilted or bent, and the range of motion may be limited.

Shortened and bowed forearms: LWD affects the growth of the radius and ulna bones in the forearm, resulting in shortened and bowed forearms. This can lead to functional limitations, such as reduced strength and dexterity in the hands and wrists.

Triangular-shaped face: Some individuals with LWD may have a characteristic facial appearance, often described as a triangular-shaped face. This facial feature is not present in all cases but can be a helpful diagnostic clue.

Other skeletal abnormalities: In addition to the primary symptoms mentioned above, LWD may also be associated with other skeletal abnormalities. These can include abnormalities in the shape and structure of the bones in the hands, fingers, and lower legs. Some individuals may also have joint laxity or hypermobility.

Normal intelligence: It is important to note that Léri-Weill Dyschondrosteosis primarily affects bone growth and development, and does not typically impact intellectual abilities. Individuals with LWD usually have normal intelligence and cognitive function.

If you suspect that you or your child may have Léri-Weill Dyschondrosteosis, it is important to consult with a healthcare professional for a proper diagnosis. Genetic testing and a thorough evaluation of the individual's medical history and physical characteristics are typically performed to confirm the diagnosis.