Multiple epiphyseal dysplasia, Beighton type (MED-B) is a rare genetic disorder that affects the growth and development of bones. It is characterized by short stature, joint laxity, and skeletal abnormalities. People with MED-B may have a short stature, joint laxity, and skeletal abnormalities such as abnormal growth of the epiphyses (the ends of the long bones), abnormal growth of the vertebrae, and abnormal growth of the ribs. Other symptoms may include hip and knee pain, scoliosis, and hearing loss. MED-B is caused by a mutation in the COL9A2 gene. Treatment is supportive and may include physical therapy, braces, and surgery.

The symptoms of Multiple epiphyseal dysplasia, Beighton type include:

-Short stature
-Joint Pain and stiffness
-Early onset of osteoarthritis
-Flat feet
-Hip and knee pain
-Limited range of motion in the hips, knees, and ankles
-Abnormal curvature of the spine (scoliosis)
-Abnormal curvature of the lower legs (genu valgum)
-Abnormal curvature of the upper arms (cubitus valgus)
-Abnormal curvature of the lower arms (ulnar deviation)
-Abnormal curvature of the fingers (camptodactyly)
-Abnormal curvature of the toes (clinodactyly)
-Delayed closure of the skull sutures

Multiple epiphyseal dysplasia, Beighton type is caused by a mutation in the COMP gene. This gene provides instructions for making a protein called cartilage oligomeric matrix protein (COMP). This protein is important for the formation and maintenance of cartilage, which is a type of connective tissue that makes up much of the skeleton during early development. Mutations in the COMP gene lead to the production of an abnormal COMP protein, which disrupts the normal development of cartilage and other connective tissues.

The treatment for Multiple epiphyseal dysplasia, Beighton type is mainly supportive and symptomatic. Physical therapy and exercise can help to maintain joint mobility and strength. Orthopedic braces and splints may be used to support weakened joints. Surgery may be recommended to correct joint deformities or to stabilize joints. Pain medications may be prescribed to help manage pain. In some cases, growth hormone therapy may be recommended to help improve growth and development.

1. Genetic mutation: Multiple epiphyseal dysplasia, Beighton type is caused by a mutation in the COMP gene.

2. Family history: Multiple epiphyseal dysplasia, Beighton type is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from a parent to be affected.

3. Age: Multiple epiphyseal dysplasia, Beighton type is usually diagnosed in childhood or adolescence.

There is no cure for Multiple epiphyseal dysplasia, Beighton type. Treatment focuses on managing the symptoms and preventing complications. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to reduce pain and inflammation. Physical therapy and bracing may be used to help maintain joint mobility and prevent deformities. Surgery may be necessary to correct joint deformities or to replace damaged joints.