Spondyloepimetaphyseal dysplasia, aggrecan type (SEMD-AG) is a rare genetic disorder that affects the bones and joints. It is caused by a mutation in the gene that codes for aggrecan, a protein found in cartilage. People with this disorder have short stature, skeletal abnormalities, and joint problems. They may also have hearing loss, vision problems, and intellectual disability. Treatment is supportive and may include physical therapy, medications, and surgery.

The symptoms of Spondyloepimetaphyseal dysplasia, aggrecan type, vary from person to person, but may include:

-Short stature
-Delayed bone age
-Flat face
-Short neck
-Short ribs
-Flared metaphyses
-Enlarged epiphyses
-Joint laxity
-Kyphoscoliosis
-Hip dysplasia
-Flattened vertebrae
-Enlarged joints
-Crowded teeth
-Hearing loss
-Cataracts
-Heart defects
-Intellectual disability

Spondyloepimetaphyseal dysplasia, aggrecan type (SEMD-AG) is a rare genetic disorder caused by mutations in the ACAN gene. This gene provides instructions for making a protein called aggrecan, which is found in cartilage and other connective tissues. Mutations in the ACAN gene lead to the production of an abnormal form of aggrecan, which disrupts the normal structure and function of cartilage and other connective tissues. This can cause the skeletal abnormalities associated with SEMD-AG.

There is no cure for Spondyloepimetaphyseal dysplasia, aggrecan type. Treatment focuses on managing the symptoms and complications. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and muscle relaxants may be prescribed to reduce pain and muscle spasms. Physical therapy and bracing may also be recommended to help improve mobility and reduce pain. Surgery may be necessary to correct skeletal deformities.