Which of the following is not seen in Ehlers-Danlos syndrome?
## **Core Concept**
Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the body's connective tissue, which provides support to various organs, joints, and other structures. The main characteristics of EDS include hypermobile joints, skin hyperextensibility, and tissue fragility. This syndrome is primarily caused by defects in collagen synthesis or structure.
## **Why the Correct Answer is Right**
The correct answer, , is associated with Ehlers-Danlos syndrome because the condition manifests with a variety of clinical features such as skin hyperextensibility, joint hypermobility, and tissue fragility. The specific features can vary depending on the subtype of EDS but generally include musculoskeletal, cutaneous, and vascular manifestations.
## **Why Each Wrong Option is Incorrect**
- **Option A:** is a feature seen in Ehlers-Danlos syndrome. Patients often exhibit joint hypermobility, which can lead to musculoskeletal problems.
- **Option B:** is also a feature of EDS. The skin of individuals with EDS is often hyperextensible and fragile.
- **Option D:** can be associated with certain types of EDS, particularly the vascular type, where there is a risk of rupture of medium and large arteries.
## **Why the Correct Answer is Not Seen in Ehlers-Danlos Syndrome**
- **Option :** Typically, Ehlers-Danlos syndrome is not primarily characterized by .
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl for EDS is the "Beighton criteria," which are used to diagnose hypermobile EDS. These include:
- 4 or more joints with a range of motion beyond the normal limits (thumb opposition to the forearm, elbows extending beyond 10 degrees, knees extending beyond 10 degrees, and dorsiflexion of the ankle beyond 20 degrees with the knee extended),
- and one or more of the following:
- Skin extensibility at the elbows or knees,
- Abnormal wound healing,
- Positive family history.
## **Correct Answer:** .