Which of the following is NOT a feature of Campomelic Dysplasia?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Campomelic Dysplasia is a genetic disorder characterized by several distinct features that primarily affect skeletal development. Among these, ambiguous genitalia, bowed long limbs, and an atypical rib count are notable characteristics of the condition.

The correct response highlights the feature that does not align with the typical presentations of Campomelic Dysplasia. Specifically, normal long bone morphology contradicts the established clinical profile of the disorder. Patients with Campomelic Dysplasia typically exhibit abnormalities in long bone structure, including bowing and shortening. The disease's name itself refers to the "bent" or "bowed" long bones seen in affected individuals.

In contrast, ambiguous genitalia is often observed in patients due to the disorder's effects on the sexual development which can be linked to mutations in the SOX9 gene. The presence of eleven pairs of ribs is also recognized as an abnormality associated with this condition, further affirming that normal long bone morphology does not fit within the recognized features of Campomelic Dysplasia.

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