Spondyloepiphyseal dysplasia, Stanescu type (SEDS) is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short stature, skeletal abnormalities, and a distinctive facial appearance. People with SEDS may also have hearing loss, vision problems, and joint pain. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Spondyloepiphyseal dysplasia, Stanescu type, include short stature, a short neck, a prominent forehead, a flattened face, a small jaw, a short nose, a high-arched palate, a small chest, and a curved spine. Other symptoms may include joint stiffness, scoliosis, and hearing loss.

Spondyloepiphyseal dysplasia, Stanescu type 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. Mutations in the COL2A1 gene lead to the production of an abnormal form of type II collagen, which can cause the signs and symptoms of Spondyloepiphyseal dysplasia, Stanescu type.

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. Genetic mutation in the COL2A1 gene
2. Family history of the disorder
3. Being of Caucasian descent
4. Being male
5. Being born prematurely

There is no cure for Spondyloepiphyseal dysplasia, Stanescu 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 orthopedic devices may also be recommended to help with mobility and posture. Surgery may be necessary to correct skeletal deformities.