Achondrogenesis type 2 is a rare genetic disorder that affects the development of bones in the body. It is a form of achondrogenesis, a group of disorders that cause abnormal growth of cartilage and bone. People with achondrogenesis type 2 typically have severe skeletal abnormalities, including short limbs, a narrow chest, and a small head. They may also have respiratory problems, feeding difficulties, and other health issues.

Symptoms of Achondrogenesis type 2 include:

-Severely shortened limbs
-Underdeveloped chest
-Abnormal head shape
-Small jaw
-Underdeveloped facial features
-Severely curved spine
-Abnormal rib cage
-Abnormal skull shape
-Abnormal vertebrae
-Abnormal hip joints
-Abnormal shoulder joints
-Abnormal elbow joints
-Abnormal knee joints
-Abnormal feet
-Abnormal hands
-Abnormal fingers
-Abnormal toes
-Abnormal fingernails
-Abnormal toenails
-Abnormal heart
-Abnormal lungs
-Abnormal kidneys
-Abnormal liver
-Abnormal intestines
-Abnormal genitalia
-Abnormal urinary tract
-Abnormal brain
-Seizures
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Achondrogenesis type 2 is caused by a mutation in the TRIP11 gene. This gene is responsible for the production of a protein called TRIP11, which is involved in the formation of cartilage and bone. Mutations in this gene can lead to the abnormal development of cartilage and bone, resulting in the skeletal abnormalities seen in Achondrogenesis type 2.

Unfortunately, there is no cure for Achondrogenesis type 2. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy to help maintain muscle strength and mobility, occupational therapy to help with daily activities, and speech therapy to help with communication. Other treatments may include respiratory support, nutritional support, and medications to help manage pain and other symptoms.

The risk factors for Achondrogenesis type 2 include:

1. Genetic mutation: Achondrogenesis type 2 is caused by a mutation in the TRIP11 gene.

2. Family history: If a family member has Achondrogenesis type 2, there is an increased risk of the condition in other family members.

3. Age: The risk of Achondrogenesis type 2 increases with age.

4. Gender: Females are more likely to be affected by Achondrogenesis type 2 than males.

Unfortunately, there is no cure or specific medications for Achondrogenesis type 2. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, and orthopedic surgery to help improve mobility.