About Upper limb mesomelic dysplasia

What is Upper limb mesomelic dysplasia?

Upper limb mesomelic dysplasia is a rare genetic disorder that affects the development of the upper limbs. It is characterized by shortening of the upper arm bones (humerus) and forearm bones (radius and ulna). The hands and fingers may also be affected, with the fingers being abnormally short and curved. Other features may include webbing of the fingers, joint contractures, and scoliosis.

What are the symptoms of Upper limb mesomelic dysplasia?

The symptoms of Upper limb mesomelic dysplasia vary depending on the type of the disorder, but generally include:

-Shortening of the upper arms and forearms
-Underdeveloped or absent thumbs
-Underdeveloped or absent radius bones
-Underdeveloped or absent ulna bones
-Underdeveloped or absent carpal bones
-Underdeveloped or absent metacarpal bones
-Underdeveloped or absent phalanges
-Underdeveloped or absent interphalangeal joints
-Underdeveloped or absent elbow joints
-Underdeveloped or absent shoulder joints
-Underdeveloped or absent wrist joints
-Underdeveloped or absent hand muscles
-Underdeveloped or absent finger muscles
-Underdeveloped or absent hand tendons
-Underdeveloped or absent finger tendons
-Underdeveloped or absent hand ligaments
-Underdeveloped or absent

What are the causes of Upper limb mesomelic dysplasia?

Upper limb mesomelic dysplasia is a rare genetic disorder caused by mutations in the SHOX gene. This gene is responsible for the production of a protein that helps regulate the development of bones and other tissues in the body. Mutations in this gene can lead to abnormal development of the upper limbs, resulting in mesomelic dysplasia. Other causes of this condition include chromosomal abnormalities, such as trisomy 18, and environmental factors, such as exposure to certain medications or toxins during pregnancy.

What are the treatments for Upper limb mesomelic dysplasia?

1. Surgery: Surgery may be recommended to correct any skeletal deformities or to improve the function of the affected limb. This may include lengthening of the affected limb, tendon transfers, and joint fusion.

2. Physical Therapy: Physical therapy can help improve range of motion, strength, and coordination of the affected limb.

3. Orthotics: Orthotics, such as splints, braces, and casts, can help support the affected limb and improve its function.

4. Occupational Therapy: Occupational therapy can help improve the ability to perform daily activities with the affected limb.

5. Medications: Medications may be prescribed to help manage pain and inflammation associated with the condition.

What are the risk factors for Upper limb mesomelic dysplasia?

1. Genetic mutations in the SHOX gene
2. Family history of the disorder
3. Maternal exposure to certain medications or environmental toxins during pregnancy
4. Maternal advanced age at the time of conception
5. Maternal diabetes or obesity

Is there a cure/medications for Upper limb mesomelic dysplasia?

There is no cure for upper limb mesomelic dysplasia. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, and orthopedic surgery to correct any skeletal deformities. Medications may also be prescribed to help manage pain and other symptoms.