NEK9-related lethal skeletal dysplasia is a rare genetic disorder that affects the development of bones and joints. It is caused by mutations in the NEK9 gene, which is involved in the regulation of cell division and growth. Symptoms of this disorder include short stature, joint contractures, and skeletal abnormalities. It is usually fatal in infancy or early childhood.

The symptoms of NEK9-related lethal skeletal dysplasia include:

-Severely shortened limbs
-Underdeveloped ribs
-Abnormal skull shape
-Delayed closure of the fontanelles
-Delayed bone age
-Delayed development of motor skills
-Delayed development of speech
-Intellectual disability
-Seizures
-Feeding difficulties
-Respiratory problems
-Cardiac abnormalities
-Hearing loss
-Vision problems
-Gastrointestinal problems
-Kidney abnormalities
-Skin abnormalities

NEK9-related lethal skeletal dysplasia is caused by mutations in the NEK9 gene. This gene is responsible for the production of a protein that is involved in the regulation of cell division and growth. Mutations in this gene can lead to abnormal development of the skeleton, resulting in a range of skeletal abnormalities including short stature, joint contractures, and skeletal malformations.

At this time, there is no known cure for NEK9-related lethal skeletal dysplasia. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, and speech therapy to help with mobility and communication. Pain management may also be necessary. Surgery may be recommended to correct any skeletal deformities. Genetic counseling may also be recommended to help families understand the condition and its implications.

1. Mutations in the NEK9 gene
2. Family history of NEK9-related lethal skeletal dysplasia
3. Advanced maternal age
4. Maternal exposure to certain medications or environmental toxins
5. Maternal diabetes or obesity
6. Maternal smoking or alcohol consumption during pregnancy

At this time, there is no known cure or medications for NEK9-related lethal skeletal dysplasia. Treatment is focused on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, and orthopedic surgery.