About Tel Hashomer camptodactyly syndrome

What is Tel Hashomer camptodactyly syndrome?

Tel Hashomer camptodactyly syndrome (THCS) is a rare genetic disorder characterized by camptodactyly (permanent flexion of the fingers) and other skeletal abnormalities. It is caused by a mutation in the gene encoding the protein telokin, which is involved in the development of the skeletal system. Symptoms may include camptodactyly, joint contractures, scoliosis, and facial dysmorphism. There is no cure for THCS, but physical therapy and orthopedic surgery may be used to manage the symptoms.

What are the symptoms of Tel Hashomer camptodactyly syndrome?

The primary symptom of Tel Hashomer camptodactyly syndrome is camptodactyly, which is a condition in which the fingers and toes are permanently bent in a flexed position. Other symptoms may include:

-Flexion contractures of the elbows, wrists, and ankles
-Short stature
-Cleft palate
-Hearing loss
-Abnormalities of the eyes, including strabismus, cataracts, and glaucoma
-Abnormalities of the teeth, including missing teeth and malocclusion
-Abnormalities of the hands and feet, including syndactyly (webbed fingers and toes) and polydactyly (extra fingers and toes)
-Abnormalities of the heart, including septal defects and other congenital heart defects
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What are the causes of Tel Hashomer camptodactyly syndrome?

Tel Hashomer camptodactyly syndrome is caused by a mutation in the HOXD13 gene. This gene is responsible for the development of the hands and feet. Mutations in this gene can cause the fingers and toes to be abnormally bent or curved, resulting in the characteristic camptodactyly seen in this syndrome.

What are the treatments for Tel Hashomer camptodactyly syndrome?

The treatments for Tel Hashomer camptodactyly syndrome vary depending on the severity of the condition. Generally, treatment focuses on managing the symptoms and improving the function of the affected hand. This may include physical therapy, splinting, and occupational therapy. Surgery may be recommended in some cases to correct the deformity and improve hand function. Other treatments may include medications to reduce pain and inflammation, and injections of botulinum toxin to reduce muscle spasms.

What are the risk factors for Tel Hashomer camptodactyly syndrome?

The primary risk factor for Tel Hashomer camptodactyly syndrome is a family history of the disorder. Other risk factors include a history of consanguinity (marriage between close relatives) and a history of multiple miscarriages.

Is there a cure/medications for Tel Hashomer camptodactyly syndrome?

At this time, there is no known cure for Tel Hashomer camptodactyly syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, splinting, and medications to help reduce pain and inflammation.