Menke-Hennekam syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and growth delays. It is caused by a mutation in the MLL2 gene. Symptoms may include a high forehead, wide-set eyes, a flat nasal bridge, a small lower jaw, and a cleft lip or palate. Other features may include hearing loss, seizures, and skeletal abnormalities.

The symptoms of Menke-Hennekam syndrome vary from person to person, but may include:

-Delayed growth and development
-Intellectual disability
-Seizures
-Feeding difficulties
-Hearing loss
-Vision problems
-Cleft lip and/or palate
-Abnormalities of the hands and feet
-Abnormalities of the head and face
-Abnormalities of the heart and other organs
-Skeletal abnormalities
-Kidney abnormalities
-Skin abnormalities

Menke-Hennekam syndrome is caused by mutations in the LMBR1 gene. This gene is responsible for the production of a protein that helps to maintain the structure of cells in the body. Mutations in this gene can lead to the development of Menke-Hennekam syndrome.

There is no cure for Menke-Hennekam syndrome, but treatments are available to manage the symptoms. These treatments may include physical therapy, occupational therapy, speech therapy, and nutritional support. Surgery may be necessary to correct physical deformities, and medications may be prescribed to help with seizures, breathing difficulties, and other medical issues. Genetic counseling is also recommended for families affected by Menke-Hennekam syndrome.

The exact cause of Menke-Hennekam syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Menke-Hennekam syndrome include a family history of the disorder, being a male, and having a mother who is a carrier of the gene mutation.

At this time, there is no cure for Menke-Hennekam syndrome. 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 seizures, pain, and other symptoms.