Lethal congenital contracture syndrome type 3 (LCCS3) is a rare genetic disorder characterized by severe joint contractures, muscle weakness, and respiratory failure. It is caused by mutations in the gene encoding the protein lamin A/C, which is involved in the formation of the nuclear envelope. Affected individuals typically die in infancy due to respiratory failure.

The symptoms of Lethal congenital contracture syndrome type 3 (LCCS3) include:

- Severe joint contractures of the hands, feet, and elbows
- Severe muscle weakness
- Poor muscle tone
- Respiratory distress
- Feeding difficulties
- Seizures
- Intellectual disability
- Abnormal facial features
- Abnormal skull shape
- Abnormalities of the eyes, ears, and nose
- Abnormalities of the heart, lungs, and kidneys
- Abnormalities of the gastrointestinal tract
- Abnormalities of the genitalia and urinary tract

The exact cause of Lethal congenital contracture syndrome type 3 (LCCS3) is unknown. However, it is believed to be caused by a mutation in the gene encoding the protein filamin A (FLNA). Mutations in this gene are thought to disrupt the normal development of the muscles and tendons, leading to the contractures seen in LCCS3.

Unfortunately, there is no known cure for Lethal congenital contracture syndrome type 3. Treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy to help maintain range of motion, occupational therapy to help with activities of daily living, and speech therapy to help with communication. Medications may also be prescribed to help manage pain and other symptoms.

1. Autosomal recessive inheritance
2. Mutations in the RAPSN gene
3. Maternal diabetes
4. Advanced maternal age
5. Exposure to certain medications or toxins during pregnancy
6. Low birth weight
7. Premature birth
8. Exposure to certain infections during pregnancy

At this time, there is no known cure for Lethal Congenital Contracture Syndrome Type 3. However, there are medications that can help manage the symptoms of the condition. These medications include muscle relaxants, anticonvulsants, and pain medications. Physical therapy and occupational therapy can also help improve the quality of life for those with the condition.