Desbuquois syndrome is a rare genetic disorder characterized by short stature, joint laxity, and skeletal abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms may include short stature, joint laxity, skeletal abnormalities, and intellectual disability.

The symptoms of Desbuquois syndrome vary from person to person, but may include:

-Delayed growth and development
-Intellectual disability
-Short stature
-Abnormal facial features, including a broad forehead, deep-set eyes, and a small chin
-Widely spaced teeth
-Hearing loss
-Abnormal curvature of the spine (scoliosis)
-Joint stiffness
-Abnormalities of the hands and feet, including short fingers and toes, and webbing between the fingers and toes
-Heart defects
-Kidney abnormalities
-Seizures

Desbuquois syndrome is a rare genetic disorder caused by mutations in the RAPSN gene. The exact cause of the mutations is unknown, but it is believed to be inherited in an autosomal recessive pattern.

Currently, there is no known cure for Desbuquois syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage pain and other symptoms. Additionally, genetic counseling may be recommended for families affected by Desbuquois syndrome.

The exact cause of Desbuquois syndrome is unknown, but it is believed to be a genetic disorder. Risk factors for Desbuquois syndrome include a family history of the disorder, being of a certain ethnic background, and having certain genetic mutations.

At this time, there is no known cure for Desbuquois syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with pain, muscle spasms, and other symptoms.