Types of EDS HSD & Paediatric

Ehlers-Danlos syndromes

Ehlers-Danlos Syndromes (EDS) are a group of genetic connective tissue disorders that affect the structure and function of collagen, a key protein that provides strength and elasticity to skin, joints, blood vessels, and internal organs. From the 2017 classification, there are 13 named subtypes, 12 with distinct genetic causes and clinical features.

The Beighton scale is used as the first criterion for diagnosis; see more above.

People with EDS often experience symptoms such as:

Joint hypermobility (joints that move beyond the normal range)
Skin hyperextensibility (stretchy skin)
Tissue fragility (poor wound healing). Some can easily bruise, a hallmark of some types as in Vascular EDS (vEDS) and Classical EDS (cEDS).
Some also bruise with Hypermobility EDS (hEDS), but this should not be an indicator or required for formal diagnosis, and many do not easily bruise at all.

Classical EDS (cEDS): Stretchy skin, atrophic scars, joint hypermobilityCOL5A1, COL5A2. Each child of an affected parent has a 50% of inheriting the condition

Classical-like LEDs Similar to cEDS but no atrophic scars TNXB

Cardiac-valvular cEDS Severe heart valve issues, joint/skin symptoms COL1A2

Vascular EDS: Arterial/organ rupture, thin skin, facial features COL3A1

Hypermobile EDSJoint hypermobility can affect all parts of the body brain: pain, exhaustion, chronic fatigue, mcas, dysautonomia, gastrointestinal issues (no known gene yet)

ArthrochalasiaaEDS (aEDS) Congenital hip dislocation, severe joint hypermobility COL1A1, COL1A2

Dermatosparaxis EDS (dEDS): Extremely fragile, saggy skin, hernias ADAMTS2

KyphoscoliotickEDS (kEDS) Severe scoliosis, muscle weakness, eye PLOD1, FKBP14

Brittle Cornea Syndrome (BCS): Fragile cornea, risk of rupture, hearing loss ZNF469, PRDM5

Spondylodysplastic (pEDS )Short stature, limb bowing, joint laxity B4GALT7, B3GALT6, SLC39A13

Musculocontractural (mcEDS) Joint contractures, skin fragility, facial featuresCHST14, DSE

Myopathic mEDS (mEDS): Muscle weakness, joint hypermobility COL12A1

Periodontal (pEDS): Severe gum disease, early tooth loss C1R, C1S

Note: All types except hypermobile EDS (hEDS) have known genetic markers and can be confirmed via genetic testing. hEDS is diagnosed based on clinical criteria and family history.

Closely Related Conditions

Hypermobility Spectrum Disorders (HSD): These are conditions with joint hypermobility but without meeting full criteria for hEDS or other EDS types. There are 4 types.

Children:

They can receive a diagnosis of paediatric generalised Hypermobility Spectrum Disorder (pgHSD) or paediatric Generalised Joint Hypermobility (pGJH).

Paediatric Generalised Joint Hypermobility (pGJH)

This refers to children who have generalised joint hypermobility (GJH) but do not have significant musculoskeletal symptoms.

Diagnostic Criteria:

Beighton Score ≥ 6/9 for children aged 5 and older. From age 13 this might revert to 5/9.
GJH must be present in multiple joints, not just isolated areas.
Skin and tissue signs may be present but are not required.

pGJH Subtypes:

Subtype: Musculoskeletal Complications Skin/Tissue

Abnormalities

Core Comorbidities

pGJH

pGJH with skin involvement stretchy

pGJH with comorbidities Absent

pGJH with skin involvement and comorbidities

Present

Absent

Present

Present pots/gi

Present

Paediatric Generalised Hypermobility Spectrum Disorder (pG-HSD)

pgHSD
- Musculoskeletal complications (e.g. pain, dislocations, soft tissue injuries)
- Core comorbidities (e.g. chronic fatigue, GI issues, POTS, anxiety)
- Skin/tissue abnormalities (e.g. soft/stretchy skin, hernias, piezogenic papules)

This diagnosis is used when GJH is present along with musculoskeletal symptoms or systemic issues. It replaces older terms like Joint Hypermobility Syndrome (JHS).