Camptodactyly Syndrome, Guadalajara Type 1 (CSG1) is a rare genetic disorder characterized by the permanent flexion of the fingers and toes. It is caused by a mutation in the gene encoding the protein filamin A, which is involved in the formation of the cytoskeleton. Symptoms of CSG1 include camptodactyly (permanent flexion of the fingers and toes), joint contractures, and facial dysmorphism. Other features may include short stature, intellectual disability, and hearing loss. Treatment is supportive and may include physical therapy, splinting, and orthopedic surgery.

The symptoms of Camptodactyly Syndrome, Guadalajara Type 1 (CSG1) include:

-Flexion contractures of the fingers and toes
-Abnormal curvature of the fingers and toes
-Abnormal joint mobility
-Abnormal facial features
-Intellectual disability
-Seizures
-Hearing loss
-Abnormalities of the eyes
-Abnormalities of the heart
-Abnormalities of the kidneys
-Abnormalities of the gastrointestinal tract
-Abnormalities of the skin

Camptodactyly syndrome, Guadalajara type 1 (CG1) is a rare genetic disorder caused by a mutation in the gene encoding the protein filamin A (FLNA). This mutation results in a decrease in the amount of filamin A protein in the body, which leads to the development of the characteristic features of CG1. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant manner.

The primary treatment for Camptodactyly Syndrome, Guadalajara Type 1 (CSGT1) is physical therapy. Physical therapy can help to improve range of motion, strength, and flexibility in the affected joints. Other treatments may include splinting, bracing, and orthopedic surgery to correct joint deformities. In some cases, medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation. In severe cases, botulinum toxin injections may be used to relax the affected muscles.

1. Genetic predisposition: Camptodactyly syndrome, Guadalajara type 1 is an autosomal dominant disorder, meaning that it is inherited in an autosomal dominant pattern. This means that a person only needs to inherit one copy of the mutated gene from one parent in order to be affected by the disorder.

2. Environmental factors: Exposure to certain environmental factors, such as certain medications, toxins, or radiation, may increase the risk of developing Camptodactyly syndrome, Guadalajara type 1.

3. Age: Camptodactyly syndrome, Guadalajara type 1 is more common in children and adolescents.

4. Gender: Camptodactyly syndrome, Guadalajara type 1 is more common in males than females.

At this time, there is no known cure for Camptodactyly Syndrome, Guadalajara type 1. However, there are medications and treatments that can help manage the symptoms. These include physical therapy, splinting, and medications such as botulinum toxin injections, nonsteroidal anti-inflammatory drugs, and muscle relaxants. Surgery may also be an option for some patients.