Read the following features and identify the genetic disorder
(I) Short statured with small round head
(II) Big and wrinkled tongue.
(III) Congenital heart disease.
(IV) Retarded physical, psychomotor and mental development.
(V) Broad palm and characteristic palm crease.

Options

A. Klinefelter's syndrome
B. Down's syndrome
C. Turner's syndrome
D. Both (2) & (3)

Answer

To identify the genetic disorder based on the provided features, we can follow these steps:

### Step 1: Analyze the Features
We have the following features to consider:
1. Short statured with a small round head
2. Big and wrinkled tongue
3. Congenital heart disease
4. Retarded physical, psychomotor, and mental development
5. Broad palm and characteristic palm crease

### Step 2: Compare with Known Genetic Disorders
Next, we will compare these features with known genetic disorders:

- **Klinefelter Syndrome**: Typically presents in males with an extra X chromosome. Symptoms may include tall stature, reduced muscle tone, and breast development, but not the features listed above.

- **Turner Syndrome**: Affects females with a missing X chromosome. Symptoms include short stature and heart defects, but it does not typically include a big and wrinkled tongue or broad palm with characteristic creases.

- **Down Syndrome**: Caused by trisomy of the 21st chromosome. Common features include:
- Short stature with a small round head
- Big and wrinkled tongue
- Congenital heart disease
- Retarded physical, psychomotor, and mental development
- Broad palm and characteristic palm crease

### Step 3: Identify the Correct Disorder
Based on the features analyzed, the symptoms align closely with Down Syndrome. The presence of a small round head, big and wrinkled tongue, congenital heart disease, and developmental delays are characteristic of Down Syndrome.

### Conclusion
The genetic disorder identified based on the provided features is **Down Syndrome**.

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