Which of the following genetic condition has the below-mentioned characteristic features: 'Extra fingers and/… - WCL Staff Nurse - 2022

WCL Staff Nurse - 2022

Pathology & Genetics

Easy

Appeared in: WCL Staff Nurse - 2022

Explanation

Polydactyly is the medical term for the congenital condition of having extra fingers or toes.
The name is derived from Greek 'poly' (many) and 'dactylos' (digit).
It is one of the most common congenital limb anomalies, occurring in approximately 1 in 1000 births.
Polydactyly can be an isolated finding or part of a larger genetic syndrome (e.g., Trisomy 13).
The inheritance pattern is often autosomal dominant, meaning an affected parent has a 50% chance of passing the trait to their child.

Option A: Huntington disease is a progressive neurodegenerative disorder. Its primary manifestations are motor (chorea), cognitive, and psychiatric disturbances, not congenital limb malformations.
Option B: Hypercholesterolemia is a metabolic disorder characterized by high levels of cholesterol in the blood, increasing the risk of cardiovascular disease. It does not cause anatomical abnormalities like extra digits.
Option D: Achondroplasia is a form of skeletal dysplasia leading to dwarfism. It is characterized by short limbs, a large head, and a specific 'trident' hand appearance, but not by an increased number of digits.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Identification of genetic conditions based on characteristic physical features as background academic context rather than a clinical decision trigger.
Nurses play a key role in the initial assessment of newborns, including identifying congenital anomalies like polydactyly.
Providing emotional support and clear information to parents is a crucial nursing intervention. Parents may be distressed by the appearance of the extra digit, and the nurse can explain that it is a common anomaly and often easily corrected.
If surgical correction is planned, the nurse is involved in pre-operative and post-operative care, including wound care, pain management, and monitoring for signs of infection.

How to Approach the Question

First, identify the key clinical feature presented in the question stem: 'Extra fingers and/or toes'.
Next, analyze the options provided, which are all names of genetic conditions.
Recall or deduce the meaning of each term. 'Poly' means many, and 'dactyl' relates to digits (fingers/toes). Therefore, 'Polydactyly' literally means 'many digits'.
Consider the primary features of the other conditions. Huntington's is neurological, Hypercholesterolemia is metabolic, and Achondroplasia is a type of dwarfism.
Match the key feature from the stem to the most fitting definition among the options. The description directly matches the definition of Polydactyly.
Confirm the selection by ruling out the other options as they do not involve supernumerary digits.

Concept Tested & Keywords

Concept Tested: Identification of genetic conditions based on characteristic physical features.
Stem keywords: genetic condition, characteristic features, Extra fingers and/or toes
Lead-in keywords: Which of the following
Negative lead-in flag: false

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E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 152-154