Spondylometaphyseal dysplasia, Golden type (SMD-GT) is a rare genetic disorder that affects the bones and cartilage. It is characterized by short stature, a short neck, and a flattened face. Other features may include a short trunk, a curved spine, and a flattened chest. Affected individuals may also have skeletal abnormalities such as short ribs, a narrow pelvis, and abnormally shaped vertebrae. In some cases, SMD-GT can cause hearing loss, vision problems, and respiratory difficulties.

The symptoms of Spondylometaphyseal dysplasia, Golden type, include short stature, a short neck, a broad chest, a prominent forehead, a flattened face, a short nose, a wide mouth, a high-arched palate, a short lower jaw, a protruding chin, a short and broad rib cage, a short and broad pelvis, and a short and broad vertebral column. Other symptoms may include scoliosis, kyphosis, joint laxity, and skeletal deformities.

Spondylometaphyseal dysplasia, Golden type (SMD-GT) is a rare genetic disorder caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is a major component of cartilage. Mutations in the COL2A1 gene lead to the production of an abnormal form of type II collagen, which disrupts the normal development of bones and other connective tissues. This can cause the signs and symptoms of SMD-GT, including short stature, skeletal abnormalities, and hearing loss.

The treatments for Spondylometaphyseal dysplasia, Golden type, vary depending on the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and bracing to help improve mobility and reduce pain. Surgery may be recommended to correct skeletal deformities or to stabilize the spine. In some cases, medications may be prescribed to help manage pain. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation in the COL2A1 gene
2. Family history of the disorder
3. Being of Ashkenazi Jewish descent
4. Being of African American descent
5. Being of Hispanic descent
6. Being of Asian descent
7. Being of Native American descent
8. Being of Middle Eastern descent

There is no cure for Spondylometaphyseal dysplasia, Golden type. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage pain, and physical therapy may be recommended to help maintain mobility. Surgery may be necessary to correct skeletal deformities.