**Question:** Not true about Edward syndrome

A. People with Edward syndrome can live independently
B. Skin lesions are common in Edward syndrome
C. Edward syndrome is always associated with intellectual disability
D. Birth defects are the only manifestations of Edward syndrome

**Core Concept:** Edward syndrome is a genetic disorder caused by a mutation in the EEC gene, leading to an increase in fibroblast growth factor 8 (FGF8) levels and subsequent developmental abnormalities.

**Why the Correct Answer is Right:**
Edward syndrome is a rare genetic disorder characterized by multiple congenital anomalies, including:
1. Small head (microcephaly), short neck, and high-arched palate, which are due to abnormal cranial development.
2. Short stature, rudimentary or absent thumbs and toes, and webbing between the toes, which are due to abnormal limb development.
3. Intellectual disability, delayed psychomotor development, and behavioral problems, which are due to impaired neural development and function.
4. Heart defects, such as ventricular septal defect (VSD) and patent ductus arteriosus (PDA), which are common but not exclusive to Edward syndrome.

**Why Each Wrong Option is Incorrect:**
A. While some individuals with Edward syndrome can live independently, the majority of affected individuals require assistance due to the severity of their disabilities.
B. Although skin lesions are not exclusive to Edward syndrome, they are less common than the characteristic features mentioned above.
C. Edward syndrome is associated with intellectual disability, but the severity of intellectual impairment varies among affected individuals. Not all affected individuals can live independently or have mild intellectual disability.
D. Birth defects are present in Edward syndrome, but not all individuals with Edward syndrome have the same set of birth defects. The condition is characterized by a combination of features, and the severity of the symptoms varies among affected individuals.

**Clinical Pearl:** Edward syndrome is a recognizable syndrome with specific clinical features, but the severity of symptoms varies among affected individuals. It is crucial to examine the characteristic features when diagnosing a patient with developmental issues and multiple congenital anomalies, as the presence of these features may lead to the suspicion of Edward syndrome, which can be confirmed by genetic testing.