Familial osteodysplasia, Anderson type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and intellectual disability. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include short stature, joint laxity, scoliosis, and facial dysmorphism. Other features may include hearing loss, seizures, and cardiac defects. Treatment is supportive and may include physical therapy, orthopedic surgery, and speech therapy.

The symptoms of Familial Osteodysplasia, Anderson type, include short stature, skeletal abnormalities, and facial dysmorphism. Short stature is characterized by a height below the third percentile for age and gender. Skeletal abnormalities may include scoliosis, kyphosis, and joint laxity. Facial dysmorphism may include a broad forehead, hypertelorism, a broad nasal bridge, a short nose, and a small chin. Other symptoms may include hearing loss, intellectual disability, and seizures.

Familial osteodysplasia, Anderson type is caused by a mutation in the gene encoding the protein filamin A (FLNA). This gene is located on the X chromosome and is inherited in an X-linked recessive pattern. Mutations in this gene lead to abnormal development of the skeleton, resulting in the signs and symptoms of Familial osteodysplasia, Anderson type.

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

2. Surgery: Surgery may be necessary to correct joint deformities or to fuse joints that are too unstable.

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

4. Assistive devices: Assistive devices such as braces, splints, and canes can help improve mobility and reduce pain.

5. Orthotics: Orthotics such as shoe inserts and orthopedic shoes can help improve balance and reduce pain.

6. Occupational therapy: Occupational therapy can help improve daily functioning and quality of life.

1. Inherited genetic mutation in the COL1A1 gene
2. Family history of the disorder
3. Being female
4. Being of Ashkenazi Jewish descent
5. Being of African-American descent

There is no known cure for Familial osteodysplasia, Anderson type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, medications to reduce pain and inflammation, and surgery to correct any skeletal deformities.