About Autosomal recessive Kenny-Caffey syndrome

What is Autosomal recessive Kenny-Caffey syndrome?

Autosomal recessive Kenny-Caffey syndrome is a rare genetic disorder that affects the growth and development of bones. It is characterized by short stature, delayed bone age, and abnormalities of the bones in the hands and feet. Other features may include intellectual disability, seizures, and vision and hearing problems. The condition is caused by mutations in the TBCE gene and is inherited in an autosomal recessive pattern.

What are the symptoms of Autosomal recessive Kenny-Caffey syndrome?

The symptoms of Autosomal recessive Kenny-Caffey syndrome include:

-Delayed growth and development
-Short stature
-Delayed bone age
-Thin bones
-Large head circumference
-Widely spaced eyes
-Widely spaced teeth
-High forehead
-Widely spaced nipples
-Delayed closure of the fontanels
-Delayed eruption of teeth
-Delayed puberty
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Feeding difficulties
-Gastrointestinal problems
-Skin abnormalities
-Joint contractures
-Scoliosis
-Cardiac defects

What are the causes of Autosomal recessive Kenny-Caffey syndrome?

The cause of Autosomal recessive Kenny-Caffey syndrome is unknown. It is believed to be caused by a mutation in the TBCE gene, which is responsible for the production of a protein called tubulin-specific chaperone E. This protein is involved in the formation of microtubules, which are essential for the normal development of bones and other tissues.

What are the treatments for Autosomal recessive Kenny-Caffey syndrome?

There is no specific treatment for Kenny-Caffey Syndrome. Treatment is based on the individual's symptoms and may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help with seizures, growth hormone therapy, and calcium and vitamin D supplements.

What are the risk factors for Autosomal recessive Kenny-Caffey syndrome?

1. Having a family history of Kenny-Caffey Syndrome.
2. Being of a certain ethnic background, such as Middle Eastern or North African.
3. Having a parent who is a carrier of the mutated gene.
4. Having a consanguineous marriage (marriage between close relatives).
5. Having a parent with a genetic mutation that causes Kenny-Caffey Syndrome.

Is there a cure/medications for Autosomal recessive Kenny-Caffey syndrome?

At this time, there is no cure for Autosomal recessive Kenny-Caffey syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage pain, seizures, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and strength.