understanding eds glossary

Short Definition
An extremely rare EDS subtype marked by congenital hip dislocations and severe joint hypermobility.

Long Definition + Context
Infants with aEDS are born with both hips dislocated (“arthrochalasia” means “joint loosening”) and have profound generalized hypermobility that leads to frequent subluxations and early osteoarthritis. Caused by mutations in COL1A1/COL1A2 (type I collagen), it follows an autosomal dominant inheritance. Management focuses on orthopedic interventions for hip stability (casting or surgery) and specialized physical therapy to build muscle support around hypermobile joints.

Short Definition
A 9-point clinical tool to screen for generalized joint hypermobility.

Long Definition + Context
Assigns points for specific maneuvers: pinky finger extension, thumb–forearm contact, elbow and knee hyperextension, and forward trunk flexion with flat palms. In adults, ≥5/9 suggests hypermobility. It’s often the first clue prompting further evaluation for hEDS/HSD, but must be paired with symptom history and other findings for an EDS diagnosis. The Prince-Cole Scale™ is much more comprehensive.

Short Definition
An ultra-rare connective tissue disorder causing dangerously thin corneas and eye rupture risk.

Long Definition + Context
Patients have corneal thinning leading to keratoconus or spontaneous globe rupture with minimal trauma. BCS also features hypermobility, skin fragility, and early hearing loss, due to mutations in ZNF469 or PRDM5. Management stresses protective eyewear, regular ophthalmology checks, and gentle tissue handling—underscoring that collagen defects can critically affect ocular health.

Short Definition
A rare autosomal-recessive EDS subtype marked by severe heart valve disease and joint hypermobility.

Long Definition + Context
Caused by biallelic mutations in COL1A2, cvEDS patients develop early, progressive mitral and aortic valve regurgitation requiring close cardiology follow-up and often surgical repair in young adulthood. They also exhibit the skin fragility and joint laxity typical of classical EDS. Management centers on routine echocardiographic surveillance, timely valve intervention, and connective-tissue-protective measures (e.g. blood pressure control, joint support), underscoring that some collagen defects manifest most critically in the heart.

Short Definition
Pain persisting >3–6 months, often independent of ongoing tissue injury.

Long Definition + Context
In EDS, chronic pain arises from joint degeneration, repeated subluxations, muscle overuse (guarding lax joints), and neuropathic phenomena (e.g., Chiari-related headaches). Treatment is multimodal: tailored physical therapy, neuropathic agents (gabapentinoids, low-dose TCAs), topical/TENS modalities, and judicious interventional or opioid use—always balanced against MCAS sensitivities and GI motility concerns.

Short Definition
An autosomal-dominant EDS subtype with velvety, hyperextensible skin and papery scars.

Long Definition + Context
Caused by COL5A1/COL5A2 mutations (type V collagen), cEDS skin bruises and tears easily and heals with wide “cigarette-paper” scars. Joint hypermobility is present but often moderate; surgical wound closure demands special techniques to prevent suture pull-through. Supportive care emphasizes skin protection (padding, contact-sport avoidance) and joint stabilization.

Short Definition
An autosomal-recessive EDS variant mimicking cEDS skin features but with different genetics.

Long Definition + Context
Often due to TNXB (tenascin-X) deficiency, clEDS presents with soft, hyperextensible skin, easy bruising, and variable joint hypermobility—yet typically milder scarring than cEDS. Genetic confirmation guides monitoring for hernias or obstetric risks and reinforces that multiple distinct gene defects can yield a “classical” EDS phenotype.

Short Definition
The body’s primary structural protein, providing tensile strength and scaffolding in tissues.

Long Definition + Context
Collagen types I, II, III, V, etc., form triple-helix fibrils in skin, bone, vessels, and organs. EDS subtypes arise from mutations in collagen genes (e.g., COL3A1 in vEDS) or processing enzymes (e.g., PLOD1 in kEDS), weakening tissue integrity. Since we lack molecular fixes for collagen defects, management focuses on compensatory strategies (muscle strengthening, blood pressure control).

Short Definition
The body’s “glue” and scaffolding, composed of collagen, elastin, and ground substance.

Long Definition + Context
It underpins skin, ligaments, blood vessels, organs, and more. In EDS/HSD, genetic mutations compromise connective tissue’s balance of strength and elasticity, explaining systemic manifestations—from joint laxity to vascular fragility. Recognizing this ubiquity clarifies why EDS affects seemingly unrelated systems.

Short Definition
Excessive looseness at the junction of skull and upper spine, risking brainstem compression.

Long Definition + Context
Lax alar/transverse ligaments permit abnormal movement between occiput, C1, and C2, causing headaches, dizziness, neuro-autonomic symptoms, and even vocal/swallowing issues. Diagnosed via flexion-extension MRI or specific measurements (e.g., Grabb-Oakes), treatment ranges from cervical collars and specialized PT to occipito-C2 fusion in severe cases.

Short Definition
A recessive EDS subtype featuring extremely fragile, sagging skin that tears easily.

Long Definition + Context
Caused by ADAMTS2 mutations, dEDS patients often present at birth with excess facial skin folds and giant hernias. Skin splits and wide scars follow minimal trauma. Management centers on rigorous skin protection, gentle wound care, and genetic counseling to distinguish from abuse in infants.

Short Definition
A family of 13 heritable connective tissue disorders marked by hypermobility, skin extensibility, and fragility.

Long Definition + Context
From hEDS (no known gene) to life-threatening vEDS (COL3A1), EDS subtypes share collagen or ECM defects but differ in presentation (e.g., vascular vs. musculoskeletal). Multi-system involvement demands joint protection, pain management, and tailored surveillance (vascular imaging in vEDS; ophthalmology in BCS). EDS is often “invisible”—patients appear healthy despite significant disability.

Short Definition
The most common EDS subtype, defined by generalized hypermobility, chronic pain, and systemic features—but no confirmed gene.

Long Definition + Context
At minimum, diagnosed by 2017 criteria requiring a positive Beighton score or history, multiple systemic manifestations (soft skin, hernias, dental crowding), and chronic musculoskeletal complaints, after excluding other EDS types. The most comprehensive clinical test is the Prince-Cole Scale™. Prevalence is ~1:3,000–5,000. hEDS often co-occurs with POTS and MCAS (“autonomic triad”), suggesting intertwined mechanisms. Management is supportive—PT for stability, therapies for dysautonomia and MCAS, and multimodal pain strategies.

Short Definition
Symptomatic joint hypermobility not meeting full hEDS criteria, yet causing similar disability.

Long Definition + Context
Introduced in 2017 to replace “Joint Hypermobility Syndrome,” HSD patients have hypermobile joints with pain, instability, or fatigue but lack enough systemic features for hEDS. HSD is genuine, often familial, and managed identically to hEDS—validating these patients’ experiences and ensuring access to appropriate therapy.

Short Definition
Excessive range of motion in one or more joints, often assessed by the Beighton score.

Long Definition + Context
True hypermobility can be isolated (e.g., in dancers) or part of EDS/HSD. Pathologic hypermobility in EDS is generalized, symptomatic, and linked to instability, pain, and proprioceptive deficits. Recognizing it guides appropriate screening and referral for specialist evaluation.

Short Definition
Failure of a joint to remain aligned due to lax ligaments or structural weakness.

Long Definition + Context
Leads to subluxations (partial joint slips) or dislocations (complete separations), causing acute pain and long-term cartilage damage. EDS patients often self-reduce minor dislocations; formal management includes muscle-strengthening, proprioceptive training, bracing, and—rarely—surgical stabilization, balancing the risk of fragile tissues.

Short Definition
A recessive EDS subtype marked by congenital muscle hypotonia and early, progressive scoliosis.

Long Definition + Context
Caused by PLOD1 or FKBP14 mutations affecting collagen cross-linking, kEDS infants are “floppy” with rapid-onset spinal curvature that often requires bracing or fusion to protect pulmonary function. Eye fragility (risk of globe rupture) and mild skin/joint features complete the phenotype, demanding multidisciplinary pediatric care.

Short Definition
An autosomal-dominant connective tissue disorder with aggressive, widespread arterial aneurysms and distinctive facial features.

Long Definition + Context
Mutations in TGF-β pathway genes (TGFBR1/2, SMAD3, etc.) cause early aneurysms/dissections throughout the vascular tree—often at smaller diameters than Marfan—plus hypertelorism (wide-set eyes) and a bifid uvula. Management involves head-to-pelvis imaging, early surgical thresholds, and ARB/beta blocker therapy to modulate TGF-β signaling.

Short Definition
A dominant fibrillin-1 disorder causing tall, lanky habitus, lens dislocation, and life-threatening aortic dilation.

Long Definition + Context
Marfan patients exhibit arachnodactyly (long fingers), pectus deformities, and aortic root aneurysms/dissections managed by beta blockers or losartan and prophylactic grafting. Unlike EDS, skin fragility and easy bruising are minimal; skeletal clues and genetic testing (FBN1) drive the diagnosis and surveillance strategy.

Short Definition
A recessive EDS subtype with congenital joint contractures, characteristic facial features, and later hypermobility.

Long Definition + Context
Caused by CHST14 or DSE mutations disrupting dermatan sulfate, mcEDS infants have clubfoot and facial underdevelopment at birth, plus soft, fragile skin and joint laxity over time. Management includes early orthopaedic correction of contractures, craniofacial care, and gentle PT as muscle tone often improves with age.

Short Definition
A collagen XII EDS subtype combining muscle weakness/hypotonia with joint hypermobility or contractures.

Long Definition + Context
COL12A1 mutations produce a spectrum: autosomal dominant cases have milder hypotonia, while recessive ones have severe floppy infantile presentations. Patients show mixed hypermobile and contracture-prone joints, requiring feeding/respiratory support initially, then careful PT, orthotics, and sometimes surgical release of contractures.

Short Definition
A group of Type I collagen disorders causing brittle bones, blue sclerae, and dentinogenesis imperfecta.

Long Definition + Context
Dominant COL1A1/COL1A2 mutations yield frequent fractures, bone deformities, and early arthritis; ligaments may be lax but fractures—not joint laxity—define OI. Managed by orthopedic rod implants, bisphosphonates to strengthen bone, and fracture prevention—OI highlights how different collagen defects manifest primarily in bone.

Short Definition
An autosomal-dominant EDS subtype causing severe early-onset gum disease and tooth loss.

Long Definition + Context
pEDS results from mutations in C1R or C1S (complement pathway genes) and presents with gingival inflammation that begins in childhood, leading to rapid periodontal destruction and premature tooth loss despite good oral hygiene. Patients also have mild joint hypermobility and skin findings. Dental management is paramount: aggressive periodontal care, frequent professional cleanings, and close collaboration between dentists and geneticists to preserve dentition and monitor systemic inflammation linked to complement dysregulation.

Short Definition
A comprehensive scoring system that quantifies EDS likelihood and severity across multiple body systems.

Long Definition + Context
Beyond the Beighton Score and the 2017 Diagnostic Criteria , this proprietary tool evaluates hypermobility (including non-Beighton joints), autonomic symptoms (POTS criteria), immune activation (MCAS signs), GI dysfunction, chronic pain impact, and family history to generate a 1–100 EDS probability/severity score. It guides both diagnosis (flagging rare EDS subtypes for genetic testing) and personalized care planning.

Short Definition
A recessive EDS subtype with short stature, bowed limbs, and typical skin/joint fragility.

Long Definition + Context
Mutations in B4GALT7, B3GALT6, or SLC39A13 disrupt proteoglycan or zinc transport, causing growth abnormalities and skeletal dysplasia alongside hyperextensible skin and mild joint hypermobility. Orthopedic management of leg bowing and early spinal surveillance are key, illustrating collagen’s role in both bone growth and connective tissue integrity.

Short Definition
A dominant collagen II/XI disorder marked by cleft palate, high myopia, retinal detachment risk, and hearing loss.

Long Definition + Context
COL2A1 or COL11A1/COL11A2 mutations lead to midface underdevelopment, Pierre Robin sequence, early-onset arthritis, and sensorineural or conductive hearing loss. Joint hypermobility is mild; ophthalmic vigilance (retinal prophylaxis) and early ENT/hearing interventions are critical, distinguishing Stickler from EDS by its predominant ocular and auditory features.

Short Definition
Abnormal anchoring of the spinal cord leading to neurologic and pelvic floor dysfunction.

Long Definition + Context
A filum terminale thickening or occult spinal anomaly restrains the cord, causing low back pain, leg weakness, sensory changes, and bladder/bowel issues. Though classical TCS is pediatric, an “occult” adult form is recognized in EDS, with some patients benefiting from surgical filum release. Its role in our community underscores EDS’s neurosurgical intersections.

Short Definition
A highly morbid EDS subtype with life-threatening vascular and organ wall fragility.

Long Definition + Context
COL3A1 mutations weaken type III collagen in vessel walls and hollow organs, predisposing to spontaneous aneurysms, dissections, and ruptures. Patients present with translucent skin, easy bruising, and sometimes only mild hypermobility. Management demands beta-blockade (e.g., celiprolol), routine vascular imaging, strict activity modification, and emergency planning for potential ruptures.

Short Definition
A holistic wellness assessment tool quantifying lifestyle and quality-of-life factors in chronic illness.

Long Definition + Context
Complementing the Prince–Cole Scale™’s diagnostic focus, this proprietary index measures nutrition, sleep, stress, activity levels, and patient-reported outcomes to generate a composite wellness score. It guides personalized lifestyle interventions—tracking improvements over time much like a “credit score” for health—ensuring that core lifestyle pillars (nutrition, sleep, stress management) are integrated into EDS care.