Hennekam-Beemer syndrome is a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. It is caused by a mutation in the RAB23 gene. Symptoms may include a distinctive facial appearance, short stature, skeletal abnormalities, and intellectual disability.

The symptoms of Hennekam-Beemer 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
-Cleft lip and/or palate
-Abnormalities of the hands and feet
-Abnormalities of the face and skull
-Abnormalities of the spine
-Abnormalities of the genitalia
-Abnormalities of the urinary tract
-Abnormalities of the gastrointestinal tract

Hennekam-Beemer syndrome is a rare genetic disorder caused by mutations in the RAB23 gene. These mutations are inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.

There is no known cure for Hennekam-Beemer syndrome. Treatment is focused 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 with seizures, breathing problems, and other medical issues. Genetic counseling may also be recommended for families affected by the condition.

The primary risk factor for Hennekam-Beemer syndrome is having a parent who carries a mutation in the RSPO2 gene. Other risk factors include having a family history of the disorder, being of Dutch descent, and being a female.

At this time, there is no known cure or specific medications for Hennekam-Beemer syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies.