Metatropic dysplasia

Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from life threatening to mild. Signs and symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body. Some individuals are additionally born with an elongated tailbone known as a coccygeal tail.^[1][2][3] Metatropic dysplasia is caused by mutations in the TRPV4 gene and is inherited in an autosomal dominant manner.^[3] Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

Metatropic dysplasia is a bone disorder with symptoms recognizable in infancy including short stature, a narrow chest with short ribs, and shortened arms and legs with "telephone" shaped long bones.^[1] Other signs and symptoms may include:^[4][2][1]

• Joint restriction and contractures
• Issues with the spine such as abnormal curvature (scoliosis and kyphosis), a long coccyx, and flattening of the bones of the spine (platyspondyly)
• An abnormally shaped pelvis
• Different facial features such as a prominent forehead, underdevelopment of the upper jaw, cheekbones and eye sockets (midface hypoplasia), and a squared-off jaw
• Shortening of the fingers and toes (brachydactyly)
• Damage to certain nerves in the body 
• Arthritis 
• Breathing issues due to spine, chest, and rib abnormalities 

Metatropic dysplasia is a genetic disorder caused by mutations in the TRPV4 gene. Studies suggest that the TRPV4 gene codes for a protein that plays a role in a number of different functions in the body including the development of the bones and cartilage.^[1]

Treatment of this condition focuses on managing the skeletal concerns and maintaining the functioning of the lungs. Treatment may include the use of braces, physical therapy, and surgical correction of skeletal abnormalities.^[2][3]