Cleidorhizomelic syndrome is a rare genetic disorder characterized by shortening of the bones in the arms and legs, as well as other skeletal abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms may include short stature, joint contractures, scoliosis, and facial abnormalities. Treatment is supportive and may include physical therapy, orthopedic surgery, and speech therapy.

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

-Short stature
-Short arms and legs
-Underdeveloped or absent collarbones
-Underdeveloped or absent shoulder blades
-Flat feet
-Hip dislocation
-Scoliosis
-Kyphosis
-Joint contractures
-Flexion deformities of the fingers
-Abnormal facial features
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Gastrointestinal problems

Cleidorhizomelic syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein filamin A. This mutation affects the development of the bones in the arms and legs, resulting in shortening of the limbs and other skeletal abnormalities. There is no known cause for this mutation, but it is believed to be inherited in an autosomal recessive pattern.

Unfortunately, there is no known cure for Cleidorhizomelic 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 other interventions to help improve mobility, strength, and function. Additionally, medications may be prescribed to help manage pain and other symptoms.

The primary risk factor for Cleidorhizomelic syndrome is a genetic mutation in the COL2A1 gene. This gene is responsible for producing the protein collagen type II, which is essential for the development of bones and cartilage. Other risk factors include a family history of the disorder, advanced maternal age, and a history of consanguinity (marriage between close relatives).

Unfortunately, there is no cure for Cleidorhizomelic 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.