Spondyloepimetaphyseal dysplasia congenita, Strudwick type is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, skeletal abnormalities, and joint laxity. Affected individuals may also have facial abnormalities, hearing loss, and intellectual disability. The disorder is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant manner.

The symptoms of Spondyloepimetaphyseal dysplasia congenita, Strudwick type, include:

-Short stature
-Delayed bone age
-Flat face
-Short neck
-Broad chest
-Short ribs
-Short limbs
-Flared metaphyses
-Enlarged epiphyses
-Enlarged joints
-Kyphoscoliosis
-Hip dysplasia
-Joint laxity
-Joint contractures
-Cervical spine instability
-Spinal stenosis
-Craniosynostosis
-Cataracts
-Hearing loss
-Developmental delay
-Intellectual disability

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is caused by a mutation in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is a major component of cartilage and other connective tissues. 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.

The treatment for Spondyloepimetaphyseal dysplasia congenita, Strudwick type, is primarily supportive and symptomatic. Treatment may include physical therapy to help maintain range of motion and muscle strength, orthopedic surgery to correct skeletal deformities, and medications to reduce pain and inflammation. In some cases, growth hormone therapy may be recommended to help improve growth and development. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation: Spondyloepimetaphyseal dysplasia congenita, Strudwick type is caused by a mutation in the COL2A1 gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Gender: The disorder is more common in males than females.

4. Ethnicity: The disorder is more common in individuals of Middle Eastern descent.

There is no cure for Spondyloepimetaphyseal dysplasia congenita, Strudwick type. Treatment focuses 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 skeletal deformities.