Singleton-Merten dysplasia is a rare genetic disorder characterized by skeletal abnormalities, including short stature, joint contractures, and scoliosis. It is caused by a mutation in the COL2A1 gene, which is responsible for the production of type II collagen. Symptoms may also include hearing loss, vision problems, and intellectual disability. Treatment typically involves physical therapy, orthopedic surgery, and other supportive measures.

The symptoms of Singleton-Merten dysplasia include:

-Delayed growth and development
-Short stature
-Joint stiffness
-Abnormal facial features, including a prominent forehead, a flat nasal bridge, a short nose, and a small chin
-Widely spaced eyes
-Hearing loss
-Abnormalities of the hands and feet, including short fingers and toes, and webbing of the fingers and toes
-Abnormalities of the spine, including Scoliosis and kyphosis
-Abnormalities of the heart, including aortic valve stenosis and atrial septal defect
-Abnormalities of the kidneys, including cysts and reduced kidney function

Singleton-Merten dysplasia is a rare genetic disorder caused by a mutation in the COL1A1 gene. This gene is responsible for producing type 1 collagen, which is a protein that helps form the structure of bones and other connective tissues. The mutation in the COL1A1 gene results in an abnormal form of type 1 collagen, which can lead to the development of skeletal abnormalities and other health problems associated with Singleton-Merten dysplasia.

Currently, there is no known cure for Singleton-Merten dysplasia. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and speech therapy to help with motor and communication skills. Surgery may be necessary to correct any skeletal deformities or joint contractures. Orthopedic braces may be used to help with mobility. In some cases, medications may be prescribed to help with pain management.

1. Advanced maternal age
2. Family history of Singleton-Merten dysplasia
3. Maternal exposure to certain medications or environmental toxins
4. Maternal diabetes
5. Maternal obesity
6. Maternal smoking
7. Maternal alcohol consumption
8. Maternal malnutrition

At this time, there is no cure or specific medications for Singleton-Merten dysplasia. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and other supportive care.