A 2 yr old boy presents with sho stature, cryptorchidism and congenital hea disease. On examination, the child was also found to have absent nails and polydactyly. Likely diagnosis is:
**Core Concept**
The question describes a child with multiple congenital anomalies, including short stature, cryptorchidism, congenital heart disease, absent nails, and polydactyly. This constellation of features suggests a genetic syndrome.
**Why the Correct Answer is Right**
The described features are characteristic of Turner syndrome, but the presence of polydactyly and absent nails suggests a different diagnosis. The correct answer is a genetic syndrome that involves a chromosomal abnormality. The syndrome is caused by a deletion of a part of the short arm of chromosome 5, leading to a deletion of genes involved in development and growth.
**Why Each Wrong Option is Incorrect**
* **Option A:** Turner syndrome is characterized by short stature, gonadal dysgenesis, and congenital heart disease, but it does not typically involve polydactyly or absent nails.
* **Option B:** Down syndrome is characterized by intellectual disability, delayed speech, and distinct facial features, but it does not typically involve the combination of features described in the question.
* **Option C:** Klinefelter syndrome is characterized by tall stature, infertility, and hypogonadism, but it does not typically involve the combination of features described in the question.
**Clinical Pearl / High-Yield Fact**
The question describes a child with a rare genetic syndrome, but the clinical features can be remembered using the mnemonic "SHAC": short stature, heart disease, absent nails, and cryptorchidism.
**Correct Answer: B. DiGeorge syndrome. DiGeorge syndrome is a genetic disorder caused by a deletion of a part of the short arm of chromosome 5, leading to a deletion of genes involved in development and growth.**