True statement regarding Achondroplasia is :
## **Core Concept**
Achondroplasia is the most common form of short-limbed dwarfism, characterized by a genetic mutation leading to abnormal bone growth. It affects the **FGFR3 (Fibroblast Growth Factor Receptor 3)** gene, which plays a crucial role in bone development. This condition results in characteristic clinical and radiological features.
## **Why the Correct Answer is Right**
The correct answer can be deduced by understanding the pathophysiology and clinical manifestations of achondroplasia. Achondroplasia is caused by a mutation in the **FGFR3 gene**, which leads to overactive signaling and impaired bone growth. This results in short stature with characteristic features such as macrocephaly, frontal bossing, and short limbs, particularly affecting the proximal segments.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Without specific details on option A, we can infer that any statement contradicting the established genetic cause (FGFR3 mutation), typical clinical features, or inheritance pattern (autosomal dominant) of achondroplasia would be incorrect.
- **Option B:** Similarly, option B would be incorrect if it suggests a different genetic cause, an incorrect mode of inheritance, or clinical features not associated with achondroplasia.
- **Option C:** This option's accuracy depends on its content, but if it does not align with known facts about achondroplasia, such as the genetic basis or common clinical manifestations, it would be incorrect.
## **Clinical Pearl / High-Yield Fact**
A key point to remember is that achondroplasia is inherited in an **autosomal dominant pattern**, meaning a mutation in one of the two copies of the **FGFR3 gene** is sufficient to cause the condition. Most cases result from **de novo mutations**, and the risk of recurrence in subsequent pregnancies is low but not negligible.
## **Correct Answer:** D. Most common cause of short-limbed dwarfism.