Lethal polymalformative syndrome, Boissel type is a rare genetic disorder characterized by multiple malformations of the body, including the brain, heart, and other organs. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms of this disorder include severe intellectual disability, seizures, and respiratory problems. Affected individuals typically do not survive beyond infancy.

The symptoms of Lethal polymalformative syndrome, Boissel type, vary from person to person, but may include:

- Severe developmental delay
- Seizures
- Abnormal facial features
- Abnormal head shape
- Abnormal skull shape
- Abnormal brain structure
- Abnormal heart structure
- Abnormal kidney structure
- Abnormal genitalia
- Abnormal limbs
- Abnormal joints
- Abnormal teeth
- Abnormal eyes
- Abnormal ears
- Abnormal hair
- Abnormal skin
- Abnormal nails
- Abnormal behavior
- Abnormal breathing
- Abnormal feeding
- Abnormal sleeping
- Abnormal growth
- Abnormal muscle tone
- Abnormal reflexes
- Abnormal coordination
- Abnormal speech
- Abnormal hearing
- Ab

Lethal polymalformative syndrome, Boissel type is caused by a mutation in the PIGV gene. This gene is responsible for the production of a protein called phosphatidylinositol glycan anchor biosynthesis, class V. This protein is involved in the formation of the cell membrane and is essential for normal development. Mutations in this gene can lead to a wide range of physical and mental abnormalities, including skeletal malformations, facial dysmorphism, and intellectual disability.

The treatments for Lethal polymalformative syndrome, Boissel type, vary depending on the individual case and the severity of the symptoms. Generally, treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and nutritional support. In some cases, surgery may be necessary to correct physical deformities or to improve breathing. Medications may also be prescribed to help manage seizures, pain, and other symptoms.

1. Mutation in the PIGV gene
2. Family history of Lethal polymalformative syndrome, Boissel type
3. Advanced maternal age
4. Exposure to certain environmental toxins
5. Low birth weight
6. Premature birth
7. Low socioeconomic status
8. Poor nutrition during pregnancy

Unfortunately, there is no cure for Lethal polymalformative syndrome, Boissel type. However, there are medications that can help manage the symptoms of the condition. These medications may include anticonvulsants, muscle relaxants, and medications to help with breathing difficulties. Additionally, physical and occupational therapy can help improve the quality of life for those with the condition.