**Core Concept**
Steel Richardson syndrome, also known as Steel syndrome, is a rare genetic disorder characterized by intellectual disability, short stature, and distinctive facial features. It is caused by mutations in the CUL3 gene, which plays a crucial role in the ubiquitin-proteasome pathway.
**Why the Correct Answer is Right**
Steel Richardson syndrome is associated with various physical and developmental abnormalities, including short stature, intellectual disability, and characteristic facial features such as a prominent forehead, a flat face, and a small jaw. The syndrome is often diagnosed in infancy or early childhood, and affected individuals may also experience seizures, hearing loss, and vision problems. The CUL3 gene mutation leads to the degradation of proteins involved in brain development and function, contributing to the cognitive and physical impairments seen in Steel Richardson syndrome.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect as it is a common feature of Steel Richardson syndrome.
**Option B:** This option is also incorrect as it is often seen in individuals with Steel Richardson syndrome.
**Option C:** This option is incorrect as it is not typically associated with Steel Richardson syndrome.
**Clinical Pearl / High-Yield Fact**
A notable feature of Steel Richardson syndrome is the presence of characteristic facial features, including a prominent forehead and a flat face, which can aid in diagnosis.
**Correct Answer: D.**
Free Medical MCQs · NEET PG · USMLE · AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.