Spondylometaphyseal dysplasia, Sedaghatian type (SMD-S) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, shortening of the bones of the spine, and abnormalities of the bones of the arms and legs. People with SMD-S may also have a curved spine, a sunken chest, and a flattened face. Other features may include hearing loss, vision problems, and intellectual disability. Treatment is supportive and may include physical therapy, orthopedic surgery, and medications.

The symptoms of Spondylometaphyseal dysplasia, Sedaghatian type, can vary from person to person, but may include:

-Short stature
-Flat face
-Short neck
-Broad chest
-Short ribs
-Short arms and legs
-Underdeveloped shoulder blades
-Flared ribs
-Enlarged joints
-Kyphoscoliosis
-Delayed bone age
-Delayed closure of the fontanels
-Delayed eruption of teeth
-Delayed motor development
-Intellectual disability
-Hearing loss
-Vision problems
-Cardiac defects
-Respiratory problems
-Gastrointestinal problems
-Renal problems
-Skin abnormalities

Spondylometaphyseal dysplasia, Sedaghatian 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. 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 Spondylometaphyseal dysplasia, Sedaghatian type, is mainly supportive and symptomatic. Treatment may include physical therapy, bracing, and medications to reduce pain and inflammation. Surgery may be recommended in some cases to correct skeletal deformities or to stabilize the spine. In some cases, genetic counseling may be recommended.

1. Genetic mutation: Spondylometaphyseal dysplasia, Sedaghatian type is caused by a mutation in the COL2A1 gene.

2. Family history: Individuals with a family history of Spondylometaphyseal dysplasia, Sedaghatian type are at an increased risk of developing the condition.

3. Ethnicity: Spondylometaphyseal dysplasia, Sedaghatian type is more common in individuals of Iranian descent.

There is no known cure for Spondylometaphyseal dysplasia, Sedaghatian type. However, there are medications that can help manage the symptoms. These include pain medications, physical therapy, and orthopedic braces. Surgery may also be recommended in some cases.