EDS Types

Over the decades, the classification of EDS has evolved in response to advancements in genetics and clinical research. The earliest classification of EDS relied on Roman numerals, organizing subtypes based on clinical features such as skin hyperextensibility, joint hypermobility, and vascular fragility. Although groundbreaking at the time, this system lacked the precision and genetic insights needed for accurate diagnosis and management.

In 1997, the Villefranche nosology replaced the Roman numeral system, simplifying the classification into six subtypes. This framework introduced clearer diagnostic criteria, emphasizing clinical and genetic findings. However, limitations remained, particularly for hypermobile EDS (hEDS), which lacked a confirmed genetic marker, and ultimately led to the comprehensive 2017 International Classification, each update has aimed to improve diagnostic accuracy and patient care.  

The 2017 international classification of Ehlers-Danlos syndromes (EDS) had recognized 13 subtypes (Arthrochalasia (aEDS), Brittle Cornea Syndrome (BCS), Cardiac-valvular EDS (cvEDS), Classical EDS (cEDS), Classical-like (clEDS), Dermatosparaxis (dEDS), Hypermobile EDS (hEDS), Kyphoscoliotic (kEDS), Myopathic (mEDS), Musculocontractural (mcEDS), Periodontal (pEDS), Spondylodysplastic (spEDS) and Vascular EDS (vEDS)) of this heritable connective tissue disorder. These subtypes are defined by clinical criteria and, with the exception of hypermobile EDS (hEDS), require molecular confirmation of specific genetic mutations. The most common form of EDS type is hEDS.

Research Article - The 2017 international classification of the Ehlers–Danlos syndromes 

The below 6 types has been found in INDIA and they have been diagnosed by their molecular, clinical, and genetic test: 

📍Hypermobile EDS (hEDS): The hypermobile Ehlers-Danlos syndrome (hEDS) is most common subtype, characterized by joint hypermobility, skin hyperextensibility, and soft/velvety skin. It is the only type without a known genetic marker.

📍Classical EDS (cEDS): The Classical Ehlers-Danlos syndrome (cEDS) is a rare inherited connective tissue disorder, affecting ~1 in 20,000–40,000 people, caused mainly by COL5A1/COL5A2 gene mutations. It is marked by significant skin fragility, atrophic scarring, and joint hypermobility, often caused by collagen type V mutations. Key symptoms include extreme skin hyperextensibility, velvety skin, atrophic (thin) scarring, easy bruising, and joint hypermobility. It is inherited in an autosomal dominant pattern.  

📍Classical-like (clEDS): The Classical-like Ehlers-Danlos Syndrome (clEDS) is a rare, autosomal recessive connective tissue disorder closely resembling Classical EDS (cEDS), characterized by extreme skin hyperextensibility with a velvety texture, generalized joint hypermobility, and easy bruising, but usually without the atrophic scarring seen in cEDS. It is primarily caused by variants in the TNXB gene.

📍Dermatosparaxis (dEDS):  The Dermatosparaxis Ehlers-Danlos Syndrome (dEDS) is an ultra-rare, autosomal recessive connective tissue disorder caused by ADAMTS2 gene mutations, resulting in severe collagen assembly failure. It is characterized by extreme skin fragility (tearing), saggy / redundant skin, significant bruising, and specific facial features.

📍Musculocontractural (mcEDS): The Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare, inherited connective tissue disorder characterized by congenital contractures, distinct craniofacial features, skin fragility, and severe joint laxity. Caused by mutations in the CHST14 or DSE genes, it causes multisystem involvement, including scoliosis, blue sclerae, and gastrointestinal issues, requiring multidisciplinary management. 

📍Vascular EDS (vEDS): The Vascular Ehlers-Danlos syndrome  (vEDS) is caused by COL3A1 mutations, leading to vascular, bowel, or uterine fragility. Key signs include thin, translucent skin, distinct facial features, and easy bruising.