Lowe’s syndrome is characterised by the following except-
**Core Concept**
Lowe's syndrome, also known as oculocerebrorenal syndrome of Lowe, is a rare X-linked recessive disorder characterized by congenital cataracts, intellectual disability, and renal tubular dysfunction. It is caused by mutations in the OCRL1 gene, which encodes a phosphatidylinositol 4,5-bisphosphate 5-phosphatase involved in the regulation of the actin cytoskeleton and endocytic pathways.
**Why the Correct Answer is Right**
The correct answer is associated with the primary clinical features of Lowe's syndrome, which include congenital cataracts, intellectual disability, and renal tubular dysfunction. These symptoms result from the impaired function of the OCRL1 gene product, leading to abnormalities in the actin cytoskeleton and endocytic pathways. The renal tubular dysfunction manifests as proximal tubule dysfunction, resulting in Fanconi syndrome.
**Why Each Wrong Option is Incorrect**
* **Option A:** Lowe's syndrome is not typically associated with a specific skin manifestation, making this option incorrect.
* **Option B:** While Lowe's syndrome does involve intellectual disability, this option is not specific to the syndrome and could be seen in various other conditions, making it an incorrect choice.
* **Option C:** This option is a characteristic feature of Lowe's syndrome, making it the correct answer to this question.
**Clinical Pearl / High-Yield Fact**
Lowe's syndrome is a classic example of a condition that can be diagnosed prenatally through genetic testing, allowing for early intervention and management. This is a critical consideration for obstetricians and geneticists.
**Correct Answer: C. Lowe's syndrome is characterised by congenital cataracts, intellectual disability, and renal tubular dysfunction.**