About Hennekam syndrome

What is Hennekam syndrome?

Hennekam syndrome is a rare genetic disorder characterized by a variety of physical abnormalities, including intellectual disability, facial dysmorphism, skeletal malformations, and lymphatic malformations. It is caused by mutations in the RAB23 gene.

What are the symptoms of Hennekam syndrome?

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

-Intellectual disability
-Developmental delay
-Growth retardation
-Facial dysmorphism (abnormal facial features)
-Cleft lip and/or palate
-Hearing loss
-Abnormalities of the eyes, including strabismus (crossed eyes) and cataracts
-Abnormalities of the hands and feet, including syndactyly (webbed fingers and toes)
-Abnormalities of the heart, including septal defects (holes in the heart)
-Abnormalities of the kidneys and urinary tract
-Abnormalities of the gastrointestinal tract, including malrotation (twisting of the intestines)
-Abnormalities of the skin, including hyperkerat

What are the causes of Hennekam syndrome?

Hennekam syndrome is a rare genetic disorder caused by mutations in the RAB23 gene. These mutations can be inherited from a parent or can occur spontaneously.

What are the treatments for Hennekam syndrome?

The treatments for Hennekam syndrome vary depending on the severity of the symptoms. Generally, treatment focuses on managing the physical and developmental issues associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and other therapies to help with motor skills, communication, and socialization. Surgery may be necessary to correct physical abnormalities, such as malformations of the face, skull, and limbs. In some cases, medications may be prescribed to help with associated medical issues, such as seizures or gastrointestinal problems.

What are the risk factors for Hennekam syndrome?

The primary risk factor for Hennekam syndrome is having a parent who is a carrier of a mutation in the LRP2 gene. Other risk factors include a family history of the disorder, being of Dutch descent, and having a parent with a history of consanguinity (marriage between close relatives).

Is there a cure/medications for Hennekam syndrome?

At this time, there is no cure for Hennekam syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include medications to help with breathing, physical therapy to help with mobility, and surgery to correct any physical deformities.