Simian crease is seen in which syndrome?
**Core Concept:**
The question is asking about a specific physical examination finding that is associated with a particular syndrome. A simian crease, also known as a simian line or Shamoun sign, is a skin crease that extends from the medial aspect of the forearm to the wrist crease. It is a skin crease that is present in humans and is named after the monkey-like appearance of the crease.
**Why the Correct Answer is Right:**
The correct answer, **D**, refers to the **Hirschsprung disease**, a congenital disorder characterized by the absence of ganglion cells in the submucosa of the rectosigmoid colon and the rectum. This absence leads to impaired motility and colonic obstruction, which results in distended bowel and altered bowel habits in the affected infants. The simian crease is a physical examination finding that can be observed in these patients due to the stretching of the skin over the enlarged and tender enlarged rectosigmoid colon.
**Why Each Wrong Option is Incorrect:**
A. **Option A (Klinefelter syndrome)** is a genetic disorder in males characterized by the presence of an additional X chromosome (XXY). The simian crease is not a feature of this condition, as it is a physical examination finding in Hirschsprung disease, not Klinefelter syndrome.
B. **Option B (Down syndrome)** is a genetic disorder characterized by a trisomy of chromosome 21. The simian crease is not a feature of Down syndrome either, as it is seen in Hirschsprung disease, not Down syndrome.
C. **Option C (Marfan syndrome)** is a genetic disorder characterized by long limbs, arched eyebrows, and other features. The simian crease is not a feature of Marfan syndrome, but rather a finding in Hirschsprung disease.
**Clinical Pearl:**
The presence of a simian crease on examination should alert the clinician to consider Hirschsprung disease in the differential diagnosis, as it is a specific physical examination finding in this condition. This is particularly important in the neonate, as prompt diagnosis and treatment can prevent complications like megacolon and megarectum.
**Correct Answer:** D (Hirschsprung disease)