Differential Diagnosis for Suspected Ehlers-Danlos Syndrome (EDS)

Single Most Likely Diagnosis

• Ehlers-Danlos Syndrome (EDS): Given the suspicion of EDS, this diagnosis is the most likely. EDS is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The diagnosis is based on clinical criteria, including skin hyperextensibility, joint hypermobility, and tissue fragility.

Other Likely Diagnoses

• Hypermobility Spectrum Disorder (HSD): This condition shares many features with EDS, including joint hypermobility, but does not meet the full diagnostic criteria for EDS. It's a common consideration in the differential diagnosis due to overlapping symptoms.
• Marfan Syndrome: Although distinct, Marfan syndrome can present with similar features such as joint hypermobility and skin manifestations, making it a plausible alternative diagnosis.
• Osteogenesis Imperfecta: This condition, known for causing bones to be fragile and break easily, can sometimes be considered in the differential due to the skeletal manifestations that might overlap with those seen in EDS.

Do Not Miss Diagnoses

• Vascular Ehlers-Danlos Syndrome: A subtype of EDS with a high risk of rupture of arteries, intestines, or uterus. It's critical to identify this subtype early due to its potentially life-threatening complications.
• Pseudoxanthoma Elasticum (PXE): A genetic disorder that can lead to mineralization and fragmentation of elastic fibers in some tissues, leading to complications like gastrointestinal bleeding and vision loss. While less common, its potential for severe outcomes warrants consideration.
• Loeys-Dietz Syndrome: Characterized by vascular and skeletal abnormalities, this syndrome can lead to aortic aneurysms and other serious vascular issues, making it a critical diagnosis not to miss.

Rare Diagnoses

• Stickler Syndrome: A genetic disorder that can affect the development of connective tissue and share some features with EDS, such as joint hypermobility and eye problems.
• Larsen Syndrome: Characterized by multiple joint dislocations and distinctive facial features, it's a rare condition that might be considered in the differential diagnosis of EDS due to the joint involvement.
• Kniest Dysplasia: A rare form of dwarfism that can involve joint and skeletal abnormalities, potentially overlapping with some features of EDS.