Spondyloepiphyseal dysplasia, Maroteaux type (SEDM) is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short stature, skeletal abnormalities, and a variety of other physical features. People with SEDM typically have short arms and legs, a short neck, and a flattened face. They may also have a curved spine, a sunken chest, and a protruding abdomen. Other features may include joint stiffness, hearing loss, and vision problems.

The symptoms of Spondyloepiphyseal dysplasia, Maroteaux type, can vary from person to person, but may include:

-Short stature
-Dwarfism
-Delayed bone age
-Flat face
-Short neck
-Small chest
-Prominent forehead
-Widely spaced eyes
-Short nose
-Small jaw
-High-arched palate
-Short fingers and toes
-Joint stiffness
-Kyphoscoliosis
-Hearing loss
-Vision problems
-Heart defects
-Kidney problems
-Intellectual disability

Spondyloepiphyseal dysplasia, Maroteaux type is 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.

The treatments for Spondyloepiphyseal dysplasia, Maroteaux type, vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and complications associated with the condition. These may include physical therapy, orthopedic surgery, 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. Spondyloepiphyseal dysplasia, Maroteaux type is an inherited disorder caused by a mutation in the COL2A1 gene.

2. It is inherited in an autosomal dominant pattern, which means that a single copy of the altered gene is sufficient to cause the disorder.

3. It is more common in individuals of French-Canadian descent.

4. It is also more common in males than females.

5. There is an increased risk of developing the disorder if there is a family history of the disorder.

There is no cure for Spondyloepiphyseal dysplasia, Maroteaux type. Treatment focuses on managing the symptoms and complications. Medications may be prescribed to help with pain, muscle spasms, and other symptoms. Physical therapy and occupational therapy may also be recommended to help maintain mobility and strength. Surgery may be necessary to correct skeletal deformities.