Stüve-Wiedemann syndrome is a rare genetic disorder characterized by skeletal abnormalities, including short stature, scoliosis, and joint contractures. It is caused by a mutation in the NSD1 gene, which is responsible for the production of a protein that helps regulate the activity of certain genes. Other symptoms may include facial abnormalities, intellectual disability, and seizures.

The symptoms of StA¼ve-Wiedemann syndrome vary from person to person, but may include:

- Low birth weight
- Small head size (microcephaly)
- Delayed growth and development
- Intellectual disability
- Seizures
- Abnormal facial features, such as a long face, wide-set eyes, and a small jaw
- Abnormalities of the hands and feet, such as extra fingers or toes (polydactyly)
- Abnormalities of the spine, such as scoliosis
- Abnormalities of the heart, such as a hole in the heart (atrial septal defect)
- Abnormalities of the kidneys, such as cysts or malformations
- Abnormalities of the eyes, such as cataracts or gl

StA¼ve-Wiedemann syndrome is a rare genetic disorder caused by a mutation in the SMAD4 gene. This gene is responsible for controlling the development of certain tissues in the body, including the bones, muscles, and organs. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder.

The treatments for StA¼ve-Wiedemann syndrome vary depending on the individual and the severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with muscle spasms and seizures. Other treatments may include nutritional supplements, braces, and splints to help with mobility. In some cases, surgery may be necessary to correct physical deformities.

1. Maternal advanced age
2. Maternal diabetes
3. Maternal obesity
4. Maternal smoking
5. Maternal alcohol consumption
6. Maternal exposure to certain medications
7. Maternal exposure to radiation
8. Maternal history of miscarriage or stillbirth
9. Family history of StA¼ve-Wiedemann syndrome

At this time, there is no cure for StA¼ve-Wiedemann syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Additionally, surgery may be recommended to correct physical abnormalities.