Which are the symptoms of Spondyloepiphyseal Dysplasia Tarda?

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disorder that primarily affects the development of bones and joints. It is characterized by abnormal growth and development of the spine and the ends of long bones, leading to a variety of symptoms.

Short stature: One of the most prominent features of SEDT is short stature. Individuals with SEDT tend to have a significantly shorter height compared to others of the same age and gender.

Skeletal abnormalities: SEDT affects the bones and joints, resulting in various skeletal abnormalities. These may include abnormal curvature of the spine (scoliosis or kyphosis), flattened vertebrae (platyspondyly), and irregularly shaped bones in the hips, knees, and ankles. These skeletal abnormalities can cause joint pain, stiffness, and limited range of motion.

Joint problems: Individuals with SEDT often experience joint problems, such as early-onset osteoarthritis. This can lead to joint pain, swelling, and stiffness, particularly in the hips, knees, and ankles.

Delayed motor development: Children with SEDT may have delayed motor development, including delayed walking and difficulty with coordination. This can be attributed to the skeletal abnormalities and joint problems that affect their mobility.

Eye abnormalities: Some individuals with SEDT may have eye abnormalities, such as nearsightedness (myopia) or clouding of the lens (cataracts). These eye problems can impact vision and may require corrective measures.

Facial features: While not always present, some individuals with SEDT may exhibit distinct facial features. These can include a flat midface, a prominent forehead, a small nose, and a short neck.

Hearing loss: In some cases, SEDT can be associated with hearing loss. This can range from mild to severe and may require the use of hearing aids or other interventions.

Other features: Additional features that may be observed in individuals with SEDT include a barrel-shaped chest, a broad and short trunk, and abnormalities in the hands and feet.

It is important to note that the severity and specific symptoms of SEDT can vary widely among affected individuals. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges and require ongoing medical management.