Spondyloepimetaphyseal dysplasia, Handigodu 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 recessive pattern. Treatment is based on the signs and symptoms present in each person.

The symptoms of Spondyloepimetaphyseal dysplasia, Handigodu type, include short stature, short limbs, a short neck, a prominent forehead, a flattened face, a short nose, a small jaw, a high-arched palate, a small chest, and a protruding abdomen. Other symptoms may include joint stiffness, scoliosis, and Skeletal abnormalities such as a short femur, a short humerus, and a short radius. In addition, affected individuals may have hearing loss, vision problems, and intellectual disability.

Spondyloepimetaphyseal dysplasia, Handigodu type is a rare genetic disorder caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is found in 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. This can cause the signs and symptoms of Spondyloepimetaphyseal dysplasia, Handigodu 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 stabilize the spine.

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

4. Assistive devices: Assistive devices such as braces, canes, and walkers may be used to help with mobility.

5. Orthotics: Orthotics, such as shoe inserts, may be used to help with balance and stability.

6. Occupational therapy: Occupational therapy can help with activities of daily living and help improve coordination and fine motor skills.

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

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

3. Ethnicity: Spondyloepimetaphyseal dysplasia, Handigodu type is more common in individuals of Indian descent.

There is no known cure for Spondyloepimetaphyseal dysplasia, Handigodu type. However, there are medications that can help manage the symptoms. These include pain medications, physical therapy, and orthopedic braces. In some cases, surgery may be recommended to correct skeletal deformities.