Keppen-Lubinsky syndrome is a rare genetic disorder characterized by intellectual disability, delayed development, and distinctive facial features. It is caused by a mutation in the KMT2A gene. Symptoms may include a long face, prominent forehead, wide-set eyes, low-set ears, and a small lower jaw. Other features may include seizures, hearing loss, and heart defects.

The symptoms of Keppen-Lubinsky syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Cleft lip and/or palate
-Abnormalities of the face and skull
-Abnormalities of the spine
-Abnormalities of the genitalia
-Behavioral problems

Keppen-Lubinsky syndrome is a rare genetic disorder caused by a mutation in the KMT2D gene. This gene is responsible for producing a protein that helps regulate the development of certain tissues in the body. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern.

Currently, there is no known cure for Keppen-Lubinsky syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help control seizures, muscle spasms, and other symptoms. Additionally, genetic counseling may be recommended for families affected by the condition.

The exact cause of Keppen-Lubinsky syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Keppen-Lubinsky syndrome include a family history of the disorder, being of Ashkenazi Jewish descent, and having a parent with a genetic mutation associated with the disorder.

At this time, there is no cure for Keppen-Lubinsky syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage seizures, muscle spasms, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and coordination.