Acromesomelic dysplasia, Maroteaux type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and distinctive facial features. It is caused by a mutation in the TRPV4 gene, which is responsible for the production of a protein that helps regulate the development of bones and cartilage. Symptoms of this disorder include short stature, short arms and legs, a curved spine, and a small chest. Other features may include a prominent forehead, a short nose, and a wide mouth with full lips.

The symptoms of Acromesomelic dysplasia, Maroteaux type, include short stature, short limbs, short fingers and toes, a curved spine, and a small chest. Other features may include a small head, a prominent forehead, a flattened nose, a small jaw, and a high-arched palate. Intellectual disability is also common.

Acromesomelic dysplasia, Maroteaux type is caused by mutations in the TRPV4 gene. This gene provides instructions for making a protein called the transient receptor potential cation channel, subfamily V, member 4 (TRPV4). This protein is involved in the transmission of signals from outside the cell to the cell's nucleus. Mutations in the TRPV4 gene lead to the production of an abnormal TRPV4 protein, which disrupts the transmission of signals and causes the signs and symptoms of Acromesomelic dysplasia, Maroteaux type.

There is no known cure for Acromesomelic dysplasia, Maroteaux type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and speech therapy. Other treatments may include medications to help with pain, muscle spasms, and joint stiffness. In some cases, surgery may be necessary to correct skeletal deformities.

1. Genetic mutation in the TRPV4 gene.
2. Family history of Acromesomelic dysplasia, Maroteaux type.
3. Advanced maternal age.
4. Exposure to certain environmental toxins.
5. Maternal diabetes.

At this time, there is no cure for Acromesomelic dysplasia, Maroteaux type. Treatment is supportive and may include physical therapy, occupational therapy, and orthopedic surgery to correct skeletal deformities. Medications may be prescribed to help manage pain and other symptoms.