King-Denborough syndrome is a rare genetic disorder characterized by skeletal abnormalities, facial dysmorphism, and intellectual disability. It is caused by a mutation in the gene encoding the protein kinase C gamma (PKCγ). Symptoms may include a distinctive facial appearance, short stature, joint contractures, and intellectual disability. Other features may include hearing loss, seizures, and heart defects.

The symptoms of King-Denborough syndrome vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Facial abnormalities
-Hearing loss
-Heart defects
-Abnormalities of the hands and feet
-Abnormalities of the eyes
-Abnormalities of the spine
-Abnormalities of the kidneys
-Abnormalities of the genitals
-Abnormalities of the teeth
-Abnormalities of the skin
-Behavioral problems
-Sleep disturbances

King-Denborough syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the protein dystrophin. This mutation results in a lack of dystrophin, which is a protein that helps to maintain the structure and function of muscle cells. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

The treatments for King-Denborough syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Surgery may be recommended to correct any physical deformities or to help improve mobility. In some cases, genetic counseling may be recommended to help families understand the condition and its implications.

The primary risk factor for King-Denborough syndrome is a family history of the disorder. Other risk factors include a genetic mutation in the DNM2 gene, which is responsible for the production of dynamin 2, a protein involved in muscle contraction. Additionally, a mutation in the ACTA1 gene, which is responsible for the production of actin, a protein involved in muscle contraction, has been linked to King-Denborough syndrome.

At this time, there is no known cure for King-Denborough syndrome. However, there are medications that can be used to help manage the symptoms of the condition. These include medications to help control seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy can help improve mobility and coordination.