Spondyloepiphyseal dysplasia, Reardon type (SED-RT) is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short stature, skeletal abnormalities, and progressive joint stiffness. People with SED-RT may also have hearing loss, vision problems, and other health issues. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Spondyloepiphyseal dysplasia, Reardon type, include:

-Short stature
-Dwarfism
-Delayed bone age
-Flat face
-Prominent forehead
-Short neck
-Flat midface
-Small lower jaw
-Short, broad hands and feet
-Joint laxity
-Kyphoscoliosis
-Hip and knee pain
-Hearing loss
-Vision problems
-Cardiac defects
-Respiratory problems
-Gastrointestinal issues
-Developmental delay

Spondyloepiphyseal dysplasia, Reardon type (SED-RT) is a rare genetic disorder caused by a mutation in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is found in cartilage and other connective tissues. The mutation in the COL2A1 gene leads to the production of an abnormal form of type II collagen, which affects the development of bones and other connective tissues. This can cause a variety of skeletal abnormalities, including short stature, abnormal vertebrae, and abnormal growth of the hip and shoulder bones.

1. Physical therapy: Physical therapy can help improve strength, flexibility, and range of motion in the affected joints.

2. Surgery: Surgery may be necessary to correct any skeletal deformities or joint problems.

3. Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation.

4. Assistive devices: Assistive devices such as braces, canes, and walkers may be used to help with mobility.

5. Genetic counseling: Genetic counseling can help individuals and families understand the condition and its implications.

1. Spondyloepiphyseal dysplasia, Reardon type is an inherited disorder caused by a mutation in the COL2A1 gene.

2. It is inherited in an autosomal dominant pattern, which means that a single copy of the altered gene is sufficient to cause the disorder.

3. Family history of the disorder is a risk factor.

4. Being a male is a risk factor, as males are more likely to be affected than females.

5. Age is also a risk factor, as the disorder is usually diagnosed in childhood.

There is no cure for Spondyloepiphyseal dysplasia, Reardon type. Treatment focuses on managing the symptoms and complications. Medications may be prescribed to help with pain, muscle spasms, and other symptoms. Physical therapy and occupational therapy may also be recommended to help maintain mobility and strength. Surgery may be necessary to correct skeletal deformities.